Genetics of Mitochondrial Cardiomyopathy

AbstractPurpose of ReviewPrimary mitochondrial disorders (PMD) are a heterogeneous group of individual genetic multi-systemic diseases that are challenging to diagnose and manage; currently, there is no cure or FDA-approved therapies for these progressive genetic syndromes. Among the many organs that may be affected by mitochondrial disorders, the heart is one of the most common, given its high energy requirements, leading to mitochondrial cardiomyopathies.Recent FindingsMitochondrial cardiomyopathies are due to underlying genetic defects in genes involved in mitochondrial functioning. These genes, which can be of nuclear or mitochondrial DNA, are either directly involved in the electron transport chain and oxidative phosphorylation or play a role in other mitochondrial pathways such as mitochondrial DNA (mtDNA) replication or maintenance of the inner mitochondrial membrane. Due to the high degree of variability and complexity, current therapeutic strategies are inadequately effective in treating mitochondrial cardiomyopathies. Further research, including longitudinal prospective natural history studies and large-scale randomized clinical trials, is warranted to determine the most effective therapeutic and pharmacologic strategies to address mitochondrial cardiomyopathies.SummaryIn this review, we present our current understanding of mitochondrial cardiomyopathies, diagnostic tools, and management.

Source: Current Cardiovascular Risk Reports - February 10, 2023 Category: Cardiology Source Type: research