Dilated Cardiomyopathy due to the Novel MT-CYB Missense Mutation m.14757T>C.

Autor:	Zarrouk S; Department of Genetic and Molecular Epidemiology, Medical University of Tunis, Tunisia., Finsterer J; City Hospital Landstrasse, Messerli Institute, Vienna, Austria., Mehri S; Department of Genetic and Molecular Epidemiology, Medical University of Tunis, Tunisia., Ourda F; Department of Functional Cardiology, La Rabta Hospital of Tunis, Tunisia., Ben Arab S; Department of Genetic and Molecular Epidemiology, Medical University of Tunis, Tunisia., Boussada R; Department of Functional Cardiology, La Rabta Hospital of Tunis, Tunisia.
Jazyk:	angličtina
Zdroj:	Journal of medical cases [J Med Cases] 2021 Nov; Vol. 12 (11), pp. 455-459. Date of Electronic Publication: 2021 Nov 05.
DOI:	10.14740/jmc3787
Abstrakt:	Mitochondrial DNA (mtDNA) mutations frequently manifest with multisystem disease, including cardiomyopathy (CM). Various studies described mutations in protein-encoding mtDNA genes, such as cytochrome-b, manifesting with CM. A detailed clinical, biochemical, and molecular genetic analysis was performed in a 40-year-old male with dilated CM (DCM) to detect the underlying mtDNA defect. Muscle biopsy showed complex-III deficiency, and sequencing of the cytochrome-b gene revealed the pathogenic variant m.14757T>C in MT-CYB , resulting in the replacement of the hydrophobic methionine by the polar threonine (M4T). By application of the PolyPhen algorithm the variant was predicted as pathogenic. The mutation was not found in 100 healthy controls and never reported as a neutral polymorphism despite extensive sequencing of the cytochrome-b gene in 2,704 normal healthy controls from different ethnic backgrounds. In conclusion, the novel variant m.14757T>C in MT-CYB is associated with DCM suggesting a pathophysiologic role of the variant in the development of DCM. Competing Interests: The authors declare no conflict of interest. (Copyright 2021, Zarrouk et al.)
Databáze:	MEDLINE
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