Severe mitochondrial encephalomyopathy caused by de novo variants in OPA1 gene.

ABSTRACT:

Background

Mitochondria adjust their shape in response to the different energetic and metabolic requirements of the cell, through extremely dynamic fusion and fission events. Several highly conserved dynamin-like GTPases are involved in these processes and, among those, the OPA1 protein is a key player in the fusion of inner mitochondrial membranes. Hundreds of monoallelic or biallelic pathogenic gene variants have been described in OPA1, all associated with a plethora of clinical phenotypes without a straightforward genotype-phenotype correlation.

Methods

Here we report two patients harboring novel de novo variants in OPA1. DNA of two patients was analyzed using NGS technology and the pathogenicity has been evaluated through biochemical and morphological studi

SUBMITTER: Di Nottia M 

PROVIDER: S-EPMC11372846 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature