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1.
Ecol Evol ; 14(9): e70241, 2024 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-39247165

RESUMEN

The genus Eutreptiella (Euglenophyceae/Euglenozoa) comprises unicellular organisms known for their photosynthetic capacity and significant role in marine ecosystems. This review highlights the taxonomic, ecological, and biotechnological characteristics of Eutreptiella species, emphasizing their morphological and genomic adaptations. Eutreptiella species exhibit high phenotypic plasticity, enabling adaptation to various environmental conditions, from nutrient-rich waters to high-salinity conditions. They play a crucial role in primary production and nutrient cycling in marine ecosystems. Genetic and transcriptomic studies have revealed their complex regulatory mechanisms and potential for biofuel and nutraceutical production. Eutreptiella blooms significantly impact local ecosystems, influencing nutrient availability and community dynamics. Additionally, interactions with associated bacteria enhance their growth and metabolic capabilities. The genus shows substantial genetic variability, suggesting potential misidentifications or a polyphyletic nature. Further comprehensive studies are needed to clarify their taxonomy and evolutionary relationships. Understanding and managing Eutreptiella populations is essential to leverage their biotechnological potential and ensure the health of marine ecosystems.

2.
Heliyon ; 10(16): e35875, 2024 Aug 30.
Artículo en Inglés | MEDLINE | ID: mdl-39247277

RESUMEN

Assessing the degree of genetic diversity and differentiation of rare or endangered endemic species is essential to evaluate the conservation status of populations and successively implement appropriate conservation strategies. We investigated the population structure of Salvia ceratophylloides Ard., a scapose hemicryptophyte endemic to Calabria (southern Italy), both to answer questions about its genetic structure and to determine whether the actual population size has undergone significant demographic changes in the near past. The data obtained from the census showed that the populations are characterised by a greater number of adult individuals than juveniles and are on declining. The genetic analysis carried out on 99 individuals from four populations of the species under study, shows a mean expected heterozygosity value of 0.50 and an overall differentiation value of 0.083. The population structure shows that the four studied populations are distinct genetic units, genetically linked to four different ancestral gene pools. Bayesian analysis based on ABC models indicates that the present populations underwent a significant reduction in size in the past. This corresponds to the demographic decline at the end of the 19th century, which according to the literature, was due to the strong anthropic pressure (agriculture, grazing, fire and plantations) of Reggio Calabria suburbs. We can therefore conclude that populations are not affected by inbreeding and low genetic diversity and that there is no immediate danger of genetic erosion, and that the problems associated with population decline, past and present, are exclusively due to anthropogenic causes.

3.
Anim Biotechnol ; 35(1): 2397682, 2024 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-39262293

RESUMEN

The history of turkey (Meleagris gallopavo) domestication can be traced back to the period between 700 and 200 BC in Mexico. This process involved multiple contributors and resulted in the development of modern local turkey breeds. This research investigates the complete mitochondrial diversity across a diverse range of local turkeys. Seventy-three turkeys were sampled from various populations, including autochthonous Italian breeds, an American breed (Narragansett), as well as wild turkeys from the USA and Mexico. The mitochondrial DNA (mtDNA) was employed as a powerful tool for biodiversity and breed phylogeny investigation. An analysis of the entire mtDNA was conducted to identify breed-specific unique traits, mitochondrial-specific characteristics, and the phylogenetic relationship among turkey populations. A total of 44 polymorphic sites were identified. Brianzolo and Narragansett birds were characterized as genetically homogeneous populations. Thirty-two different haplotypes were identified when our samples were compared with mtDNA D-loop of 96 online available turkeys from various geographical countries. H1 and H2, differing for one mutation, were the most abundant, comprising 132 of the 185 sequences. H1 included samples coming from every region, while H2 was predominantly characterized by Italian samples. USA and Mexican samples appear to be more variable in their mtDNA than the other populations.


Asunto(s)
ADN Mitocondrial , Genoma Mitocondrial , Haplotipos , Filogenia , Pavos , Animales , Pavos/genética , ADN Mitocondrial/genética , Haplotipos/genética , Genoma Mitocondrial/genética , Análisis de Secuencia de ADN , Variación Genética
4.
J Dairy Sci ; 2024 Aug 30.
Artículo en Inglés | MEDLINE | ID: mdl-39218066

RESUMEN

Oligosaccharides (OS) in milk have been suggested to influence the health and development of the newborn by promoting growth of beneficial gut bacteria, stimulating brain development, and enhancing immune functions. Goat milk is a natural source of specific OS, which could be a potential beneficial ingredient for infant formula. In this study, goat milk oligosaccharide (gMOS) content from approximately 1,000 dairy goats across 18 commercial farms was studied. A genomic relationship matrix was used to unravel genetic and environmental factors shaping gMOS content. The most abundant gMOS identified was 3'-NGL, with a concentration of 32.05 mg/kg, while 3-FL exhibited the lowest concentration at 1.85 mg/kg. Acidic OS had a notably higher content (81.67 mg/kg) than neutral OS (24.88 mg/kg). High variability in gMOS content was observed among individual goats, which could for a large extent be attributed to genetic differences. Heritability estimates ranged from 31% for 3'-GL to 85% for 3-FL. High positive genetic correlations (>0.57) were estimated between 3'-SL and 6'-SL, and between 6'-GL and 3'-GL. The contribution of differences between farms to variation in milk OS content varied from 3% for 3'-NGL to 45% for 6'-SL. While gMOS like 3'-GL, 6'-GL, and 6'-NGL, were significantly influenced by systematic environmental factors such as the lactation stage, the impact of these factors was relatively minor compared with the importance of genetic and farm effects. This research, which stands out due to its relatively large sample size, underscores the pivotal role of genetics, and to a smaller extent farm practices like feed ration, in determining gMOS composition.

5.
J Adv Vet Anim Res ; 11(2): 264-274, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-39101071

RESUMEN

Objective: Alveolar echinococcosis is caused by Echinococcus multilocularis, a parasite of zoonotic significance with a wide range of intermediate and final hosts, and the parasite survives successfully in diversified conditions. Plentiful studies have been done to study the genetic structure of the population of the parasite and the level of intimate kinship using mitochondrial (mt) DNA. The present study was conducted to investigate the population structure, genetic variation, and phylogenetic relationship of various isolates of E. multiocularis submitted to GenBank worldwide. Sequences of mt genes (mt-cytochrome c oxidase (cox1), mt-NADH dehydrogenase (nad1)) of E. multilocularis were analyzed to achieve the set goals. Materials and Methods: A total of 275 and 124 gene sequences of mt-cox1 and mt-nad1 belonging to E. multilocularis, respectively, were retrieved from the National Center for Biotechnology Information GenBank. The retrieved sequences were subjected to alignment with respective reference sequences using MEGA software. The PopArt software was used to establish median-joining networks, while DnaSp was used to calculate neutrality and diversity indices. MrBayes software was used to investigate the phylogenetic association between haplotypes based on Bayesian phylogeny. Results: Approximately 13 and 20 distinctive haplotypes of nad1 and cox1 genes, respectively, were observed in the present study. In both of the mt genes, diversity indices indicated low haplotype (mt-cox1 = 0.140; mt-nad1 = 0.374) and nucleotide (mt-cox1 = 0.00111; mt-nad1 = 0.00287) diversities. The values of Tajima's D and Fu Fs for a population of both of the genes under study were found to be negative. Conclusion: This study is a maiden attempt to provide insights into the population structure and genetic variation of E. multilocularis on a global scale. However, it is suggested that to better understand the population structure and genetic diversity of E. multilocularis, more geographical locations and amplifications of full-length gene sequences should be considered, which could be helpful in widening the insights into the genetic diversity of E. multilocularis.

6.
J Med Virol ; 96(8): e29880, 2024 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-39185678

RESUMEN

Human papillomavirus (HPV) is an important causative factor of cervical cancer and is associated with nonsmall cell lung cancer (NSCLC). Merkel cell polyomavirus (MCPyV) is a rare and highly fatal cutaneous virus that can cause Merkel cell carcinoma (MCC). Although coinfection with oncogenic HPV and MCPyV may increase cancer risk, a definitive etiological link has not been established. Recently, genomic variation and genetic diversity in the MCPyV noncoding control region (NCCR) among ethnic groups has been reported. The current study aimed to provide accurate prevalence information on HPV and MCPyV infection/coinfection in NSCLC patients and to evaluate and confirm Korean MCPyV NCCR variant genotypes and sequences. DNA from 150 NSCLC tissues and 150 adjacent control tissues was assessed via polymerase chain reaction (PCR) targeting regions of the large T antigen (LT-ag), viral capsid protein 1 (VP1), and NCCR. MCPyV was detected in 22.7% (34 of 150) of NSCLC tissues and 8.0% (12 of 150) of adjacent tissues from Korean patients. The incidence rates of HPV with and without MCPyV were 26.5% (nine of 34) and 12.9% (15 of 116). The MCPyV NCCR genotype prevalence in Korean patients was 21.3% (32 of 150) for subtype I and 6% (nine of 150) for subtype IIc. Subtype I, a predominant East Asian strain containing 25 bp tandem repeats, was most common in the MCPyV NCCR data set. Our results confirm that coinfection with other tumor-associated viruses is not associated with NSCLC. Although the role of NCCR rearrangements in MCPyV infection remains unknown, future studies are warranted to determine the associations of MCPyV NCCR sequence rearrangements with specific diseases.


Asunto(s)
Carcinoma de Pulmón de Células no Pequeñas , Variación Genética , Genotipo , Poliomavirus de Células de Merkel , Infecciones por Papillomavirus , Humanos , Carcinoma de Pulmón de Células no Pequeñas/virología , Carcinoma de Pulmón de Células no Pequeñas/genética , Femenino , Poliomavirus de Células de Merkel/genética , Poliomavirus de Células de Merkel/aislamiento & purificación , Persona de Mediana Edad , Masculino , Anciano , Infecciones por Papillomavirus/virología , Infecciones por Papillomavirus/complicaciones , Infecciones por Papillomavirus/epidemiología , República de Corea/epidemiología , Infecciones por Polyomavirus/virología , Infecciones por Polyomavirus/epidemiología , Infecciones por Polyomavirus/complicaciones , Papillomaviridae/genética , Papillomaviridae/clasificación , Adulto , Coinfección/virología , Coinfección/epidemiología , Neoplasias Pulmonares/virología , Anciano de 80 o más Años , Prevalencia , ADN Viral/genética , Infecciones Tumorales por Virus/virología , Infecciones Tumorales por Virus/complicaciones , Infecciones Tumorales por Virus/epidemiología , Reacción en Cadena de la Polimerasa , Virus del Papiloma Humano
7.
BMC Genom Data ; 25(1): 74, 2024 Aug 01.
Artículo en Inglés | MEDLINE | ID: mdl-39090581

RESUMEN

Trait heritability and the response to selection depend on genetic variation, a prerequisite to developing sorghum varieties with desirable agronomic traits and high carbon sequestration for sustainable crop production and soil health. The present study aimed to assess the extent of genetic variability and associations among agronomic and carbon storage traits in selected sorghum genotypes to identify the best candidates for production or breeding. Fifty genotypes were evaluated at Ukulinga, Bethlehem and Silverton sites in South Africa during the 2022/23 growing season. The following agronomic and carbon storage traits were collected: days to 50% heading (DTH), days to 50% maturity (DTM), plant height (PH), total plant biomass (PB), shoot biomass (SB), root biomass (RB), root-to-shoot biomass ratio (RS), grain yield (GY), harvest index (HI), shoot carbon content (SCc), root carbon content (RCc), grain carbon content (GCc), total plant carbon stock (PCs), shoot carbon stock (SCs), root carbon stock (RCs), and root-to-shoot carbon stock ratio (RCs/SCs), and grain carbon stock (GCs). Higher genotypic coefficient of variations (GCVs) were recorded for GY at 45.92%, RB (39.24%), RCs/SCs (38.45), and RCs (34.62). Higher phenotypic coefficient of variations (PCVs) were recorded for PH (68.91%), followed by GY (51.8%), RB (50.51%), RS (41.96%), RCs/SCs (44.90%), and GCs (41.90%). High broad-sense heritability and genetic advance were recorded for HI (83.76 and 24.53%), GY (78.59 and 9.98%), PB (74.14 and 13.18%) and PCs (53.63 and 37.57%), respectively, suggesting a marked genetic contribution to the traits. Grain yield exhibited positive association with HI (r = 0.76; r = 0.79), DTH (r = 0.13; r = 0.31), PH (r = 0.1; r = 0.27), PB (r = 0.01; r = 0.02), RB (r = 0.05; r = 0.06) based on genotypic and phenotypic correlations, respectively. Further, the path analysis revealed significant positive direct effects of SB (0.607) and RB (0.456) on GY. The RS exerted a positive and significant indirect effect (0.229) on grain yield through SB. The study revealed that PB, SB, RB, RS, RCs, and RCs/SCs are the principal traits when selecting sorghum genotypes with high yield and carbon storage capacity.


Asunto(s)
Carbono , Variación Genética , Genotipo , Sorghum , Sorghum/genética , Sorghum/metabolismo , Sorghum/crecimiento & desarrollo , Variación Genética/genética , Carbono/metabolismo , Biomasa , Fenotipo , Grano Comestible/genética , Grano Comestible/metabolismo , Grano Comestible/crecimiento & desarrollo , Raíces de Plantas/genética , Raíces de Plantas/crecimiento & desarrollo , Raíces de Plantas/metabolismo
8.
J Anim Breed Genet ; 2024 Aug 23.
Artículo en Inglés | MEDLINE | ID: mdl-39180228

RESUMEN

Genetic, environmental, technological and financial resources are used differently in cattle herds that participate in the same breeding programme. The percentages of calves sired by sires within their own herd or from external herds vary across herds, as do the intensities of use of reproductive biotechnologies. These divergences may be related to differences in the indicators of genetic performance for economic traits. The aim of this study was to determine the factors related to herd structure and genetic resource utilization that exert the greatest influence on the genetic merit of seedstock herds within a Nellore breeding programme. The database comprised 21 factors, along with genomic-enhanced expected progeny differences (GE-EPDs) for growth, reproductive and carcass traits, as well as a selection index of animals from 128 herds. By combining principal component analysis and cluster analysis, we were able to group the herds. We identified statistically significant differences (p < 0.05) in the mean values of the factors, GE-EPDs and genetic trends among the groups of herds. Differences in the percentage of sires from external herds and in sire age between the groups of herds were the factors most associated with differences in mean GE-EPDs and genetic trends. Using young sires from other herds or lineages is an effective strategy in animal breeding. By enhancing genetic variability, this approach does not only improve the genetic quality of herds but also accelerates genetic progress in desired traits over time. Therefore, to ensure the success of this strategy, it is crucial that seedstock herds undergo a thorough selection process aimed at maximizing the genetic potential of future generations of beef cattle.

9.
Nutrients ; 16(16)2024 Aug 13.
Artículo en Inglés | MEDLINE | ID: mdl-39203810

RESUMEN

Personalized nutrition (PN) represents a transformative approach in dietary science, where individual genetic profiles guide tailored dietary recommendations, thereby optimizing health outcomes and managing chronic diseases more effectively. This review synthesizes key aspects of PN, emphasizing the genetic basis of dietary responses, contemporary research, and practical applications. We explore how individual genetic differences influence dietary metabolisms, thus underscoring the importance of nutrigenomics in developing personalized dietary guidelines. Current research in PN highlights significant gene-diet interactions that affect various conditions, including obesity and diabetes, suggesting that dietary interventions could be more precise and beneficial if they are customized to genetic profiles. Moreover, we discuss practical implementations of PN, including technological advancements in genetic testing that enable real-time dietary customization. Looking forward, this review identifies the robust integration of bioinformatics and genomics as critical for advancing PN. We advocate for multidisciplinary research to overcome current challenges, such as data privacy and ethical concerns associated with genetic testing. The future of PN lies in broader adoption across health and wellness sectors, promising significant advancements in public health and personalized medicine.


Asunto(s)
Nutrigenómica , Medicina de Precisión , Humanos , Medicina de Precisión/métodos , Dieta , Pruebas Genéticas , Política Nutricional , Obesidad/genética , Obesidad/dietoterapia
10.
Arch Microbiol ; 206(9): 374, 2024 Aug 10.
Artículo en Inglés | MEDLINE | ID: mdl-39127775

RESUMEN

Pythium sensu lato (s.l.) is a pathogenic oomycete. The present study was conducted to isolate and identify Pythium s.l. species associated with the rhizosphere and roots of greenhouse-growing cucumbers showing damping-off symptoms in 10 Omani governorates (provinces). A total of 166 isolates were recovered from 276 rhizosphere soil and root samples and were identified based on the ribosomal DNA (rDNA) internal transcribed spacer (ITS) region and the cytochrome c oxidase subunit I (COX I) gene region. Pythium aphanidermatum, P. myriotylum, Globisporangium spinosum, Globisporangium sp.1 (isolates Kb003/PySyCu-1 and Kb004/PySyCu-2), and Globisporangium sp.2 (isolate Ib002R) were identified. Among these species, P. aphanidermatum was the most abundant species, represented by 143 isolates (86.1%), followed by G. spinosum with 18 isolates (10.8%), Globisporangium sp.1 and P. myriotylum each with 2 isolates (2.4%), and Globisporangium sp.2 with 1 isolate (0.6%). Pathogenicity tests were also conducted for 38 isolates, including P. aphanidermatum (25), P. myriotylum (2), Globisporangium sp.2 (1), G. spinosum (8), and Globisporangium sp.1 (2). Among the tested isolates, only Globisporangium sp.2 isolate was avirulent, and none of the seeds were rotted at the end of the treatment. However, the other species induced the symptoms of seed decay with the incidence ranged from 86.7 to 100%. Phylogenetic analyses were conducted based on 222 ITS and 53 COX I sequences, and confirmed morphological identification. In addition, the genetic diversity of 93 P. aphanidermatum isolates was assessed via the amplified fragment length polymorphism (AFLP) method. The analysis produced 93 genotypes and 449 polymorphic loci. Pythium aphanidermatum populations were found to have moderate levels of genetic diversity (H = 0.2) and a moderate Shannon information index (I = 0.3793). Analysis of molecular variance (FST = 0.1, P = 0.0) revealed a moderate level of genetic differentiation among P. aphanidermatum isolates between Oman governorates. The sensitivity of 15 P. aphanidermatum isolates was evaluated against hymexazol at different concentrations (10, 100, and 1000 ppm). The results revealed that P. aphanidermatum could grow well at concentrations of up to 100 ppm hymexazol. However, hymexazol at 1000 ppm retarded the growth of P. aphanidermatum. This study showed that P. aphanidermatum is the most prevalent species in greenhouses in Oman and exhibited a moderate level of genetic diversity. Most of the isolates exhibited differences in tolerance to hymexazol but showed no resistance.


Asunto(s)
Cucumis sativus , Filogenia , Enfermedades de las Plantas , Pythium , Rizosfera , Microbiología del Suelo , Pythium/genética , Pythium/aislamiento & purificación , Pythium/clasificación , Enfermedades de las Plantas/microbiología , Cucumis sativus/microbiología , Omán , Semillas/microbiología , Raíces de Plantas/microbiología , ADN Espaciador Ribosómico/genética
11.
Int J Parasitol ; 2024 Aug 20.
Artículo en Inglés | MEDLINE | ID: mdl-39168434

RESUMEN

Millions of livestock animals worldwide are infected with the haematophagous barber's pole worm, Haemonchus contortus, the aetiological agent of haemonchosis. Despite the major significance of this parasite worldwide and its widespread resistance to current treatments, the lack of a high-quality genome for the well-defined strain of this parasite from Australia, called Haecon-5, has constrained research in a number of areas including host-parasite interactions, drug discovery and population genetics. To enable research in these areas, we report here a chromosome-contiguous genome (∼280 Mb) for Haecon-5 with high-quality models for 19,234 protein-coding genes. Comparative genomic analyses show significant genomic similarity (synteny) with a UK strain of H. contortus, called MHco3(ISE).N1 (abbreviated as "ISE"), but we also discover marked differences in genomic structure/gene arrangements, distribution of nucleotide variability (single nucleotide polymorphisms (SNPs) and indels) and orthology between Haecon-5 and ISE. We used the genome and extensive transcriptomic resources for Haecon-5 to predict a subset of essential single-copy genes employing a "cross-species" machine learning (ML) approach using a range of features from nucleotide/protein sequences, protein orthology, subcellular localisation, single-cell RNA-seq and/or histone methylation data available for the model organisms Caenorhabditis elegans and Drosophila melanogaster. From a set of 1,464 conserved single copy genes, transcribed in key life-cycle stages of H. contortus, we identified 232 genes whose homologs have critical functions in C. elegans and/or D. melanogaster, and prioritised 10 of them for further characterisation; nine of the 10 genes likely play roles in neurophysiological processes, germline, hypodermis and/or respiration, and one is an unknown (orphan) gene for which no detailed functional information exists. Future studies of these genes/gene products are warranted to elucidate their roles in parasite biology, host-parasite interplay and/or disease. Clearly, the present Haecon-5 reference genome and associated resources now underpin a broad range of fundamental investigations of H. contortus and could assist in accelerating the discovery of novel intervention targets and drug candidates to combat haemonchosis.

12.
Viruses ; 16(8)2024 Aug 20.
Artículo en Inglés | MEDLINE | ID: mdl-39205305

RESUMEN

BACKGROUND: Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is a new emerging coronavirus that caused coronavirus disease 2019 (COVID-19). Whole-genome tracking of SARS-CoV-2 enhanced our understanding of the mechanism of the disease, control, and prevention of COVID-19. METHODS: we analyzed 3368 SARS-CoV-2 protein sequences from Iran and compared them with 15.6 million global sequences in the GISAID database, using the Wuhan-Hu-1 strain as a reference. RESULTS: Our investigation revealed that NSP12-P323L, ORF9c-G50N, NSP14-I42V, membrane-A63T, Q19E, and NSP3-G489S were found to be the most frequent mutations among Iranian SARS-CoV-2 sequences. Furthermore, it was observed that more than 94% of the SARS-CoV-2 genome, including NSP7, NSP8, NSP9, NSP10, NSP11, and ORF8, had no mutations when compared to the Wuhan-Hu-1 strain. Finally, our data indicated that the ORF3a-T24I, NSP3-G489S, NSP5-P132H, NSP14-I42V, envelope-T9I, nucleocapsid-D3L, membrane-Q19E, and membrane-A63T mutations might be responsible factors for the surge in the SARS-CoV-2 Omicron variant wave in Iran. CONCLUSIONS: real-time genomic surveillance is crucial for detecting new SARS-CoV-2 variants, updating diagnostic tools, designing vaccines, and understanding adaptation to new environments.


Asunto(s)
COVID-19 , Genoma Viral , Mutación , SARS-CoV-2 , SARS-CoV-2/genética , SARS-CoV-2/clasificación , Irán/epidemiología , Humanos , COVID-19/virología , COVID-19/epidemiología , Sustitución de Aminoácidos , Glicoproteína de la Espiga del Coronavirus/genética
13.
Artículo en Inglés | MEDLINE | ID: mdl-38961758

RESUMEN

CONTEXT: Diabetes mellitus (DM) risk factors in Turner Syndrome (TS) may include autoimmunity, obesity, beta-cell dysfunction, genetic predisposition and insulin resistance (IR). OBJECTIVE: Evaluate glucose tolerance and DM risk factors in adults with TS. DESIGN: A single centre study with two phases. To determine the prevalence of DM and to assess diabetes risk markers comparing women with TS with and without impaired glucose tolerance (IGT). SETTING: Tertiary referral center, University College Hospitals. PATIENTS: 106 Women with TS (age range 18-70 years) undergoing annual health surveillance. INTERVENTIONS: Participants underwent oral glucose tolerance tests (OGTT), with additional samples for autoimmunity and genetic analysis. MAIN OUTCOME MEASURE: Glucose tolerance, insulin, autoimmune and single nucleotide polymorphism (SNP) profile. RESULTS: OGTT screening showed that those without a previous DM diagnosis, 72.7% had normal glucose tolerance, 19.5% had IGT, and 7.6% were newly diagnosed with DM. OGTT identified more cases of DM than HbAc1 sampling alone. Women with IGT or DM were older, with higher body mass index and IR. No association was found between autoimmune markers GAD, IA-2 and ZnT8, risk karyotypes or selected SNPs and DM. In DM cases, GAD positivity was associated with requirement for insulin therapy. The median age of onset of the diagnosis of DM was 36 years (range 11-56). CONCLUSIONS: In the spectrum of DM subtypes, TS-associated DM lies between type 1 and type 2 DM with features of both. Key factors include weight and IR. Assessing C-peptide or GAD antibodies may aid future insulin requirement.

14.
Diabetes Metab Res Rev ; 40(5): e3834, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-38961642

RESUMEN

AIMS: We recently reported that genetic variability in the TKT gene encoding transketolase, a key enzyme in the pentose phosphate pathway, is associated with measures of diabetic sensorimotor polyneuropathy (DSPN) in recent-onset diabetes. Here, we aimed to substantiate these findings in a population-based KORA F4 study. MATERIALS AND METHODS: In this cross-sectional study, we assessed seven single nucleotide polymorphisms (SNPs) in the transketolase gene in 952 participants from the KORA F4 study with normal glucose tolerance (NGT; n = 394), prediabetes (n = 411), and type 2 diabetes (n = 147). DSPN was defined by the examination part of the Michigan Neuropathy Screening Instrument (MNSI) using the original MNSI > 2 cut-off and two alternative versions extended by touch/pressure perception (TPP) (MNSI > 3) and by TPP plus cold perception (MNSI > 4). RESULTS: After adjustment for sex, age, BMI, and HbA1c, in type 2 diabetes participants, four out of seven transketolase SNPs were associated with DSPN for all three MNSI versions (all p ≤ 0.004). The odds ratios of these associations increased with extending the MNSI score, for example, OR (95% CI) for SNP rs62255988 with MNSI > 2: 1.99 (1.16-3.41), MNSI > 3: 2.27 (1.26-4.09), and MNSI > 4: 4.78 (2.22-10.26); SNP rs9284890 with MNSI > 2: 2.43 (1.42-4.16), MNSI > 3: 3.46 (1.82-6.59), and MNSI > 4: 4.75 (2.15-10.51). In contrast, no associations were found between transketolase SNPs and the three MNSI versions in the NGT and prediabetes groups. CONCLUSIONS: The link of genetic variation in transketolase enzyme to diabetic polyneuropathy corroborated at the population level strengthens the concept suggesting an important role of pathways metabolising glycolytic intermediates in the evolution of diabetic polyneuropathy.


Asunto(s)
Diabetes Mellitus Tipo 2 , Neuropatías Diabéticas , Polimorfismo de Nucleótido Simple , Transcetolasa , Humanos , Transcetolasa/genética , Femenino , Masculino , Neuropatías Diabéticas/genética , Neuropatías Diabéticas/epidemiología , Neuropatías Diabéticas/etiología , Persona de Mediana Edad , Diabetes Mellitus Tipo 2/genética , Diabetes Mellitus Tipo 2/complicaciones , Estudios Transversales , Anciano , Predisposición Genética a la Enfermedad , Estado Prediabético/genética , Estado Prediabético/complicaciones , Pronóstico , Adulto , Estudios de Seguimiento
15.
PeerJ ; 12: e17609, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-39071133

RESUMEN

Pre-harvest sprouting (PHS) is one of the important abiotic stresses in mungbean which significantly reduces yield and quality of the produce. This study was conducted to evaluate the genetic variability for tolerance to pre-harvest sprouting in diverse mungbean genotypes while simultaneously deciphering the association of yield contributing traits with PHS. Eighty-three diverse mungbean genotypes (23 released varieties, 23 advanced breeding lines and 37 exotic germplasm lines) were investigated for tolerance to PHS, water imbibition capacities by pods, pod and seed physical traits. Wide variation in PHS was recorded which ranged between 17.8% to 81% (mean value 54.34%). Germplasm lines exhibited higher tolerance to PHS than the high-yielding released varieties. Correlation analysis revealed PHS to be positively associated with water imbibition capacity by pods (r = 0.21) and germinated pod % (r = 0.78). Pod length (r = -0.13) and seeds per pod (r = -0.13) were negatively influencing PHS. Positive associations between PHS and water imbibition capacity by pods, germinated pod % and 100-seed weight was further confirmed by multivariate analysis. Small-seeded genotypes having 100-seed weight <3 g exhibited higher tolerance to PHS compared to bold-seeded genotypes having 100-seed weight more than 3.5 g. Fresh seed germination among the selected PHS tolerant and susceptible genotypes ranged from 42% (M 204) to 98% (Pusa 1131). A positive association (r = 0.79) was recorded between fresh seed germination and PHS. Genotypes M 1255, M 145, M 422, M 1421 identified as potential genetic donors against PHS could be utilized in mungbean breeding programs.


Asunto(s)
Variación Genética , Genotipo , Germinación , Vigna , Vigna/genética , Vigna/crecimiento & desarrollo , Variación Genética/genética , Germinación/genética , Semillas/genética , Semillas/crecimiento & desarrollo , Fitomejoramiento/métodos
16.
J Infect Dis ; 230(1): 109-119, 2024 Jul 25.
Artículo en Inglés | MEDLINE | ID: mdl-39052700

RESUMEN

BACKGROUND: Cutavirus (CuV) is associated with mycosis fungoides; however, the CuV status in parapsoriasis en plaques (PP), a premalignant inflammatory condition of mycosis fungoides, has not been fully delineated. METHODS: Fifty-five Japanese patients with chronic inflammatory skin diseases, including 13 patients with PP, were studied. RESULTS: CuV DNA was detected significantly more frequently in biopsies of the lesional skin from patients with PP (38%; 4 of 13) than in those from patients with other inflammatory skin diseases (2%; 1 of 42; P = .009). All CuV-positive PP cases were of the large-plaque parapsoriasis (LPP) subtype. The viral loads ranged from 83 450 to 2 164 170 copies/103 cells. We recovered near-full-length CuV sequences from the CuV-positive LPP biopsies, all of which were of the Japanese/Asian genotype. The CuV genome appeared to be present within lymphoid cells infiltrating the epidermis and dermis. CuV NS1 and VP1 gene transcripts were also detected in the affected tissues. CONCLUSIONS: The detection of high levels of CuV DNA with the expression of viral mRNA suggests a potential role for CuV in the pathogenesis of LPP, making it necessary to study further the impact of CuV, especially regarding the viral genotype, on the outcomes of patients with CuV-positive LPP.


Asunto(s)
Micosis Fungoide , Parapsoriasis , Humanos , Micosis Fungoide/virología , Micosis Fungoide/patología , Masculino , Femenino , Persona de Mediana Edad , Anciano , Parapsoriasis/virología , Parapsoriasis/patología , Adulto , ADN Viral/genética , Piel/patología , Piel/virología , Carga Viral , Japón , Anciano de 80 o más Años , Biopsia , Neoplasias Cutáneas/virología , Neoplasias Cutáneas/patología , Lesiones Precancerosas/virología , Lesiones Precancerosas/patología , Virus ADN/genética , Virus ADN/aislamiento & purificación , Virus ADN/clasificación
17.
Plants (Basel) ; 13(13)2024 Jul 01.
Artículo en Inglés | MEDLINE | ID: mdl-38999657

RESUMEN

Durum wheat (Triticum turgidum L. ssp. durum) landraces, traditional local varieties representing an intermediate stage in domestication, are gaining attention due to their high genetic variability and performance in challenging environments. While major kernel metabolites have been examined, limited research has been conducted on minor bioactive components like lipids, despite their nutritional benefits. To address this, we analyzed twenty-two tetraploid accessions, comprising modern elite cultivars and landraces, to (i) verify if the selection process for yield-related traits carried out during the Green Revolution has influenced lipid amount and composition; (ii) uncover the extent of lipid compositional variability, giving evidence that lipid fingerprinting effectively identifies evolutionary signatures; and (iii) identify genotypes interesting for breeding programs to improve yield and nutrition. Interestingly, total fat did not correlate with kernel weight, indicating lipid composition as a promising trait for selection. Tri- and di-acylglycerol were the major lipid components along with free fatty acids, and their relative content varied significantly among genotypes. In particular, landraces belonging to T. turanicum and carthlicum ecotypes differed significantly in total lipid and fatty acid profiles. Our findings provide evidence that landraces can be a genetically relevant source of lipid variability, with potential to be exploited for improving wheat nutritional quality.

18.
Foods ; 13(12)2024 Jun 15.
Artículo en Inglés | MEDLINE | ID: mdl-38928823

RESUMEN

Sunflower seeds are key agricultural commodities due to their nutritional and industrial value. This study aimed to analyze the distribution of targeted bioactive compounds and assess the physical properties across 27 sunflower seed genotypes, including parental lines and F1 and F2 hybrids, cultivated in Serbia. Various analytical techniques were employed to determine the chemical composition and physical characteristics of the seeds. This research revealed significant genetic variability in fatty acid profiles, with differences in polyunsaturated and saturated fatty acid levels among the genotypes. Hybrid seeds displayed variations in 1000-seed weight and bulk density compared to parental lines, which exhibited higher essential fatty acid contents and mechanical properties advantageous for industrial processing. These insights highlight the potential for refining breeding strategies to improve seed quality for specific industrial purposes. Overall, this study emphasizes the critical role of genetic selection in enhancing the nutritional and processing qualities of sunflower seeds, offering valuable perspectives for advancing agricultural and breeding practices.

19.
Plants (Basel) ; 13(11)2024 May 27.
Artículo en Inglés | MEDLINE | ID: mdl-38891292

RESUMEN

Nepeta nuda L., a notable medicinal species in the tradition of the Balkan region, is a rich source of bioactive iridoids and phenolics previously described as high-resolution taxonomical classifiers for the genus Nepeta. However, their potential in investigating intra-species differentiation is here described for the first time. The aim was to recognize the sources of natural chemical diversity and their association with the genetic variability both within and among N. nuda populations in the Central Balkans. Chemical diversity was assessed from methanol extracts and essential oils through untargeted and targeted metabolomics using state-of-the-art analytical tools, covering a broad spectrum of compounds that represent the N. nuda metabolome. We found that chemodiversity primarily resides within populations of N. nuda, and similar results were obtained at the DNA level using microsatellite markers. The low genetic and chemical differentiation of the studied N. nuda populations implies that their metabolomic profiles may be less influenced by geographic distance and variable environmental conditions within the Central Balkans, as they are under the pivotal control of their genetic backgrounds. Screening the distribution of the major bioactive compounds belonging to phenolics (phenolic acids and flavonoids) and iridoids (both aglycones and glycosylated forms), within and among N. nuda populations, is able to guarantee mass spectrometry-based tools for the selection of elite representative genotypes with practical importance. The knowledge acquired will allow us to delve deeper into the molecular background of N. nuda chemical diversity, which is the course of our further work.

20.
Commun Integr Biol ; 17(1): 2124631, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38827582

RESUMEN

Two methods have been compared for determining the value of natural selection in the natural populations. The first method, based on the FST-statistics, employs the dependence of genetic diversity of a species on the value of gene flow between subpopulations of the species, derived from the assumption that all the mutations are close to selective neutrality, and subpopulations effect each other equally. Susceptibility to selection is estimated by the degree of deviation from this relationship between genetic diversity and gene flow in certain species. The second method is based on the probability theory and involves comparison between stabilities of the forms, competing in the population, which is computed using the data about fluctuations in their occurrence in several generations. As applied to the problems of genetic monitoring of rare and valuable species, the first method can be employed for express-assessment of susceptibility of a species to rapid intraspecific changes. The second method is suitable for a long-term and in-depth genetic monitoring of the species subjected to extremely intense natural selection of a disruptive or stabilizing form, which were revealed using the first method. There is a lack of long-term observations of intraspecific genetic variation of rare and protected species. The need for funds that finance long-term genetic research is substantiated.

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