Systematic analysis of a mitochondrial disease-causing ND6 mutation in mitochondrial deficiency.

ABSTRACT:

Background

The m.14487T>C mutation is recognized as a diagnostic mutation of mitochondrial disease during the past 16 years, emerging evidence suggests that mutant loads of m.14487T>C and disease phenotype are not closely correlated.

Methods

Immortalized lymphocytes were generated by coculturing the Epstein-Barr virus and lymphocytes from m.14487T>C carrier Chinese patient with Leigh syndrome. Fifteen cytoplasmic hybrid (cybrid) cell lines were generated by fusing mtDNA lacking 143B cells with platelets donated by patients. Mitochondrial function was systematically analyzed at transcriptomic, metabolomic, and biochemical levels.

Results

Unlike previous reports, we found that the assembly of mitochondrial respiratory chain complexes, mitochondrial respiration, and mito

SUBMITTER: Chen D 

PROVIDER: S-EPMC7216815 | biostudies-literature | 2020 May

REPOSITORIES: biostudies-literature