ArticleJournal of cardiovascular development and disease2023
Why Don't More Mitochondrial Diseases Exhibit Cardiomyopathy?
Article in Journal of cardiovascular development and disease, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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3 authors at 1 institution in 1 country.
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Abstract
backgroundAlthough the heart requires abundant energy, only 20-40% of children with mitochondrial diseases have cardiomyopathies.
methodsWe 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.
resultsA total of 107/241 (44%) mitochondrial genes was associated with cardiomyopathy; the highest proportion were OXPHOS genes (46%). OXPHOS (
conclusionsWhile energy generation is strongly associated with cardiomyopathy in mitochondrial diseases, many energy generation defects are not linked to cardiomyopathy. The inconsistent link between mitochondrial disease and cardiomyopathy is likely to be multifactorial and includes tissue-specific expression, incomplete clinical data, and genetic background differences.
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