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Frequency of rs1051338 and rs116928232 Variants in Individuals from Northwest Mexico.
Hernández-Orozco, Angélica Alejandra; Melendez-Aranda, Lennon; Mendoza-Ruvalcaba, Sandra Del Carmen; Perea-Díaz, Francisco Javier; Cebolla, Jorge J; Giraldo, Pilar; Brambila-Tapia, Aniel Jessica Leticia; García-Ortíz, José Elías.
Afiliação
  • Hernández-Orozco AA; Doctorado en Genética Humana, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara, Mexico.
  • Melendez-Aranda L; Laboratorio de Diagnóstico Bioquímico de Enfermedades Lisosomales, División de Genética, Centro de Investigación Biomédica de Occidente (CIBO), Instituto Mexicano del Seguro Social (IMSS), Guadalajara Jalisco, Mexico.
  • Mendoza-Ruvalcaba SDC; Estancia Postdoctoral académica CONACYT, Centro de investigación en dinámica Molecular, Universidad Autónoma del Estado de Morelos (UAEM), Cuernavaca, Mexico.
  • Perea-Díaz FJ; Laboratorio de Diagnóstico Bioquímico de Enfermedades Lisosomales, División de Genética, Centro de Investigación Biomédica de Occidente (CIBO), Instituto Mexicano del Seguro Social (IMSS), Guadalajara Jalisco, Mexico.
  • Cebolla JJ; Laboratorio de Genética 2, División de Genética, Centro de Investigación Biomédica de Occidente (CIBO), Instituto Mexicano del Seguro Social (IMSS), Guadalajara Jalisco, Mexico.
  • Giraldo P; Departamento de Bioquímica, Biología Molecular y Celular, Facultad de Ciencias, Universidad de Zaragoza, Zaragoza, Spain.
  • Brambila-Tapia AJL; Fundación Española Estudio y Terapéutica Enfermedad de Gaucher y Otras Lisosomales (FEETEG), Zaragoza, Spain.
  • García-Ortíz JE; Departamento de Psicología Básica, Centro Universitario de Ciencias de la Salud (CUCS), Universidad de Guadalajara, Guadalajara, Jalisco, Mexico.
J Clin Lab Anal ; 38(13-14): e25083, 2024 Jul.
Article em En | MEDLINE | ID: mdl-39105399
ABSTRACT

BACKGROUND:

LIPA, situated on chromosome 10q23.2-q23.3, encodes the enzyme lysosomal acid lipase (LAL) (EC 3.1.1.13). Genetic alterations in LIPA lead to lysosomal acid lipase deficiency (LALD), an inborn error causing lipid metabolism anomalies and impairing cholesterol and triacylglyceride degradation. Over 40 LIPA variants have been documented, yet this study focuses on just two. The rs1051338 variant (NM_000235c.46A>C) affects the signal peptide in Exon 2, whereas rs116928232, located in Exon 8, alters the splice site (NM_000235c.894G>A), impacting lysosomal acid lipase activity. Considering the diverse clinical manifestations of LALD and the rising hepatic steatosis prevalence in Mexican population, mainly due to diet, these variants were investigated within this demographic to uncover potential contributing factors. This study aimed to reveal the frequency of rs1051338 and rs116928232 among healthy mestizo individuals in Northwest Mexico, marking a significant genetic exploration in this demographic.

METHODS:

Three hundred ten healthy mestizo individuals underwent PCR-RFLP analysis for both variants, and Sanger sequencing was performed for variant rs116928232. Bioinformatic analysis was also performed to predict protein changes.

RESULTS:

Allele frequencies for rs1051338 (FA = 0.39, p value = 0.15) and rs116928232 (FA = 0.0016, p value = 0.49) aligned with reported data, while bioinformatic analysis allowed us to identify the protein alteration observed in both variants; finally, the variants showed no linkage between them (normalized D' = 1.03, p value = 0.56).

CONCLUSIONS:

Allelic frequencies closely matched reported data, and protein structure analysis confirmed variant impacts on LAL enzyme function. Notably, this study marks the first analysis of rs1051338 and rs116928232 in a healthy Mexican mestizo population.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Esterol Esterase / Polimorfismo de Nucleotídeo Único / Frequência do Gene Limite: Adult / Female / Humans / Male / Middle aged País/Região como assunto: Mexico Idioma: En Revista: J Clin Lab Anal Assunto da revista: TECNICAS E PROCEDIMENTOS DE LABORATORIO Ano de publicação: 2024 Tipo de documento: Article País de afiliação: México País de publicação: Estados Unidos
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Esterol Esterase / Polimorfismo de Nucleotídeo Único / Frequência do Gene Limite: Adult / Female / Humans / Male / Middle aged País/Região como assunto: Mexico Idioma: En Revista: J Clin Lab Anal Assunto da revista: TECNICAS E PROCEDIMENTOS DE LABORATORIO Ano de publicação: 2024 Tipo de documento: Article País de afiliação: México País de publicação: Estados Unidos