[Pathogenic mechanisms of Leber hereditary optic neuropathy caused by m.3472T>C mutation].

ABSTRACT:

Objectives

To investigate the molecular mechanism underlying Leber hereditary optic neuropathy (LHON) caused by the m.3472T>C (p.Phe56Leu) mutation.

Methods

Three large pedigrees (WZL122, WZ676, WZ706) carrying the m.3472T>C mutation were identified and selected from a cohort of 1397 LHON patients. Immortalized lymphoblast cell lines were established from peripheral blood samples obtained from two affected individuals carrying homoplasmic m.3472T>C mutation (derived from one Han Chinese LHON pedigree) and two genetically unrelated, matched healthy controls. The MitoTool software was used to analyze the complete mitochondrial DNA sequence to determine the haplogroup background, and the conservation of the mitochondrial DNA (mtDNA) mutation site was evaluated using the MitoMap

SUBMITTER: Zhang H 

PROVIDER: S-EPMC12750053 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature