Maternally inherited mitochondrial respiratory disorders: from pathogenetic principles to therapeutic implications.

ABSTRACT: Maternally inherited mitochondrial respiratory disorders are rare, progressive, and multi-systemic diseases that remain intractable, with no effective therapeutic interventions. Patients share a defective oxidative phosphorylation pathway responsible for mitochondrial ATP synthesis, in most cases due to pathogenic mitochondrial variants transmitted from mother to child or to a rare de novo mutation or large-scale deletion of the mitochondrial genome. The clinical diagnosis of these mitochondrial diseases is difficult due to exceptionally high clinical variability, while their genetic diagnosis has improved with the advent of next-generation sequencing. The mechanisms regulating the penetrance of the mitochondrial variants remain unresolved with the patient's nuclear background, epigenomic

SUBMITTER: Uittenbogaard M 

PROVIDER: S-EPMC7749081 | biostudies-literature | 2020 Sep - Oct

REPOSITORIES: biostudies-literature