Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes.

ABSTRACT:

Objective

ATP synthase (ATPase) is responsible for the majority of ATP production. Nevertheless, disease phenotypes associated with mutations in ATPase subunits are extremely rare. We aimed at expanding the spectrum of ATPase-related diseases.

Methods

Whole-exome sequencing in cohorts with 2,962 patients diagnosed with mitochondrial disease and/or dystonia and international collaboration were used to identify deleterious variants in ATPase-encoding genes. Findings were complemented by transcriptional and proteomic profiling of patient fibroblasts. ATPase integrity and activity were assayed using cells and tissues from 5 patients.

Results

We present 10 total individuals with biallelic or de novo monoallelic variants in nuclear ATPase subunit genes. Three unrelated pati

SUBMITTER: Zech M 

PROVIDER: S-EPMC9939050 | biostudies-literature | 2022 Feb

REPOSITORIES: biostudies-literature