Mitochondrial encephalopathy Due to a Novel Pathogenic Mitochondrial tRNA^Gln m.4349C>T Variant.

ABSTRACT:

Objective

Mitochondrial diseases are a group of genetic diseases caused by mutations in mitochondrial DNA and nuclear DNA, among which, mutations in mitochondrial tRNA genes possessing prominent status. In most of the cases, however, the detailed molecular pathogenesis of these tRNA gene mutations remains unclear.

Methods

We performed the clinical emulation, muscle histochemistry, northern blotting analysis of tRNA levels, biochemical measurement of respiratory chain complex activities and mitochondrial respirations in muscle tissue and cybrid cells.

Results

We found a novel m.4349C>T mutation in mitochondrial tRNA^Gln gene in a patient present with encephalopathy, epilepsy, and deafness. We demonstrated molecular pathomechanisms of this mutation. This mutat

SUBMITTER: Ji K 

PROVIDER: S-EPMC7318088 | biostudies-literature | 2020 Jun

REPOSITORIES: biostudies-literature