Why Don't More Mitochondrial Diseases Exhibit Cardiomyopathy?

ABSTRACT:

Background

Although the heart requires abundant energy, only 20-40% of children with mitochondrial diseases have cardiomyopathies.

Methods

We looked for differences in genes underlying mitochondrial diseases that do versus do not cause cardiomyopathy using the comprehensive Mitochondrial Disease Genes Compendium. Mining additional online resources, we further investigated possible energy deficits caused by non-oxidative phosphorylation (OXPHOS) genes associated with cardiomyopathy, probed the number of amino acids and protein interactors as surrogates for OXPHOS protein cardiac "importance", and identified mouse models for mitochondrial genes.

Results

A total of 107/241 (44%) mitochondrial genes was associated with cardiomyopathy; the highest proportion were OXPHOS ge

SUBMITTER: Singh N 

PROVIDER: S-EPMC10144188 | biostudies-literature | 2023 Apr

REPOSITORIES: biostudies-literature