Wide diagnostic and genotypic spectrum in patients with suspected mitochondrial disease.

ABSTRACT:

Background

Mitochondrial Diseases (MDs) are a diverse group of neurometabolic disorders characterized by impaired mitochondrial oxidative phosphorylation and caused by pathogenic variants in more than 400 genes. The implementation of next-generation sequencing (NGS) technologies helps to increase the understanding of molecular basis and diagnostic yield of these conditions. The purpose of the study was to investigate diagnostic and genotypic spectrum in patients with suspected MD. The comprehensive analysis of mtDNA variants using Sanger sequencing was performed in the group of 83 unrelated individuals with clinically suspected mitochondrial disease. Additionally, targeted next generation sequencing or whole exome sequencing (WES) was performed for 30 patients of the study group.

SUBMITTER: Grigalioniene K 

PROVIDER: S-EPMC10544509 | biostudies-literature | 2023 Oct

REPOSITORIES: biostudies-literature