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Genomics landscape of mitochondrial DNA variations in patients from South Italy affected by mitochondriopathies.
Citrigno, Luigi; Qualtieri, Antonio; Cerantonio, Annamaria; De Benedittis, Selene; Gallo, Olivier; Di Palma, Gemma; Spadafora, Patrizia; Cavalcanti, Francesca.
Afiliación
  • Citrigno L; Institute for Biomedical Research and Innovation (IRIB), Department of Biomedical Sciences, National Research Council (CNR), Mangone (CS), Italy. Electronic address: luigi.citrigno@irib.cnr.it.
  • Qualtieri A; Institute for Biomedical Research and Innovation (IRIB), Department of Biomedical Sciences, National Research Council (CNR), Mangone (CS), Italy.
  • Cerantonio A; Institute for Biomedical Research and Innovation (IRIB), Department of Biomedical Sciences, National Research Council (CNR), Mangone (CS), Italy.
  • De Benedittis S; Institute for Biomedical Research and Innovation (IRIB), Department of Biomedical Sciences, National Research Council (CNR), Mangone (CS), Italy.
  • Gallo O; Institute for Biomedical Research and Innovation (IRIB), Department of Biomedical Sciences, National Research Council (CNR), Mangone (CS), Italy.
  • Di Palma G; Institute for Biomedical Research and Innovation (IRIB), Department of Biomedical Sciences, National Research Council (CNR), Mangone (CS), Italy.
  • Spadafora P; Institute for Biomedical Research and Innovation (IRIB), Department of Biomedical Sciences, National Research Council (CNR), Mangone (CS), Italy.
  • Cavalcanti F; Institute for Biomedical Research and Innovation (IRIB), Department of Biomedical Sciences, National Research Council (CNR), Mangone (CS), Italy.
J Neurol Sci ; 457: 122869, 2024 Feb 15.
Article en En | MEDLINE | ID: mdl-38215527
ABSTRACT
Mitochondrial DNA (mtDNA) is a 16,569 base pairs, double-stranded, circular molecule that contains 37 genes coding for 13 subunits of the respiratory chain plus 2 rRNAs and 22 tRNAs. Mutations in these genes have been identified in patients with a variety of disorders affecting every system in the body. The advent of next generation sequencing technologies has provided the possibility to perform the whole mitochondrial DNA sequencing, allowing the identification of disease-causing pathogenic variants in a single platform. In this study, the whole mtDNA of 100 patients from South Italy affected by mitochondrial diseases was analyzed by using an amplicon-based approach and then the enriched libraries were deeply sequenced on the ION Torrent platform (Thermofisher Scientific Waltham, MA, USA). After bioinformatics analysis and filtering, we were able to find 26 nonsynonymous variants with a MAF <1% that were associated with different pathological phenotypes, expanding the mutational spectrum of these diseases. Moreover, among the new mutations found, we have also analyzed the 3D structure of the MT-ATP6 A200T gene variation in order to confirm suspected functional alterations. This work brings light on new variants possibly associated with several mitochondriopathies in patients from South Italy and confirms that deep sequencing approach, compared to the standard methods, is a reliable and time-cost reducing strategy to detect all the variants present in the mitogenome, making the possibility to create a genomics landscape of mitochondrial DNA variations in human diseases.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: ADN Mitocondrial / Mitocondrias Límite: Humans País/Región como asunto: Europa Idioma: En Revista: J Neurol Sci Año: 2024 Tipo del documento: Article Pais de publicación: Países Bajos
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: ADN Mitocondrial / Mitocondrias Límite: Humans País/Región como asunto: Europa Idioma: En Revista: J Neurol Sci Año: 2024 Tipo del documento: Article Pais de publicación: Países Bajos