Study of novel NARS2 variants in patient of combined oxidative phosphorylation deficiency 24.

ABSTRACT:

Background

NARS2 catalyzes the attachment of asparagine amino acids to mitochondrial tRNA^Asn and is critical for efficient mitochondrial protein synthesis. Biallelic variants in NARS2 are associated with combined oxidative phosphorylation deficiency 24 (COXPD24) and autosomal recessive deafness-94.

Methods

Patient information was obtained after recruitment. Genetic tests were performed using whole exome sequencing (WES) and Sanger sequencing. Structure prediction was based on the RaptorX and SWISS-MODEL platforms. The mRNA analysis of paternal variant was performed. Expression levels and dimerization of wild-type (WT) and mutant NARS2 were detected in human embryonic kidney (HEK) 293T cells. Mitochondrial localization of NARS2 variants

SUBMITTER: Zhang Y 

PROVIDER: S-EPMC9085945 | biostudies-literature | 2022 Apr

REPOSITORIES: biostudies-literature