Mitochondrial Protein Homeostasis and Cardiomyopathy.

ABSTRACT: Human mitochondrial disorders impact tissues with high energetic demands and can be associated with cardiac muscle disease (cardiomyopathy) and early mortality. However, the mechanistic link between mitochondrial disease and the development of cardiomyopathy is frequently unclear. In addition, there is often marked phenotypic heterogeneity between patients, even between those with the same genetic variant, which is also not well understood. Several of the mitochondrial cardiomyopathies are related to defects in the maintenance of mitochondrial protein homeostasis, or proteostasis. This essential process involves the importing, sorting, folding and degradation of preproteins into fully functional mature structures inside mitochondria. Disrupted mitochondrial proteostasis interferes with mit

SUBMITTER: Wachoski-Dark E 

PROVIDER: S-EPMC8953902 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature