Proteomic Analysis of m.8296A>G Variation in the Mitochondrial tRNA ^Lys Gene.

ABSTRACT: Variation in the mitochondrial tRNA ^Lys gene at position 8296 was previously found to be associated with maternally inherited diabetes mellitus and deafness, hypertrophic cardiomyopathy, myoclonic epilepsy with ragged-red fibers and mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes. The pathogenicity of the m.8296A>G variation is unclear. In this study, we aimed to analyze the mitochondrial proteome in a patient with m.8296A>G variation to elucidate the effects of this mutation at the protein level. Whole-exome sequencing and mitochondrial genome analysis were performed in a patient with sensorineural hearing impairment, cognitive impairment, leukodystrophy, migraine-like headaches, and gastrointestinal dysmotility. Mitochondrial genome ana

SUBMITTER: Maras Genc H 

PROVIDER: S-EPMC9421666 | biostudies-literature | 2022 Jul

REPOSITORIES: biostudies-literature