Genetic aspects of the oxidative phosphorylation dysfunction in dilated cardiomyopathy
| Autor: | Lorenzo Labarta, Eduardo Ruiz-Pesini, Julio Montoya, Eldris Iglesias, Sonia Emperador, M. Pilar Bayona-Bafaluy, David Pacheu-Grau, Ester López-Gallardo |
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| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
Cardiomyopathy Dilated Mitochondrial DNA Nuclear gene Health Toxicology and Mutagenesis Oxidative phosphorylation Bioinformatics DNA Mitochondrial Oxidative Phosphorylation 03 medical and health sciences 0302 clinical medicine Genetics Medicine Humans Gene business.industry Genetic heterogeneity Dilated cardiomyopathy medicine.disease Phenotype 3. Good health Mitochondria 030104 developmental biology Mitochondrial biogenesis 030220 oncology & carcinogenesis Mutation business |
| Zdroj: | Mutation research. Reviews in mutation research. 786 |
| ISSN: | 1388-2139 |
| Popis: | Dilated cardiomyopathy is a frequent and extremely heterogeneous medical condition. Deficits in the oxidative phosphorylation system have been described in patients suffering from dilated cardiomyopathy. Hence, mutations in proteins related to this biochemical pathway could be etiological factors for some of these patients. Here, we review the clinical phenotypes of patients harboring pathological mutations in genes related to the oxidative phosphorylation system, either encoded in the mitochondrial or in the nuclear genome, presenting with dilated cardiomyopathy. In addition to the clinical heterogeneity of these patients, the large genetic heterogeneity has contributed to an improper allocation of pathogenicity for many candidate mutations. We suggest criteria to avoid incorrect assignment of pathogenicity to newly found mutations and discuss possible therapies targeting the oxidative phosphorylation function. |
| Databáze: | OpenAIRE |
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