Key result
The novel missense mutation m.14757T>C in the MT-CYB gene was identified in a patient with dilated cardiomyopathy and complex-III deficiency, but was absent in 100 healthy controls.
Why the study?
To detect the underlying mitochondrial DNA defect in a patient with dilated cardiomyopathy, given that mtDNA mutations can manifest with cardiomyopathy.
Case Report (n=101)
The novel variant m.14757T>C in MT-CYB is associated with dilated cardiomyopathy, suggesting a pathophysiologic role in DCM development.
May implicate MT-CYB variants in DCM; hypothesis-generating and requires validation before any clinical consideration.
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. J Med Cases. 2021;12(11):455-459 doi: https://doi.org/10.14740/jmc3787
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Zarrouk‐Mahjoub et al. (2021) conducted a case report in Dilated Cardiomyopathy (n=101). MT-CYB Missense Mutation m.14757T>C vs. Healthy controls was evaluated on Presence of m.14757T>C mutation. The novel missense mutation m.14757T>C in the MT-CYB gene was identified in a patient with dilated cardiomyopathy and complex-III deficiency, but was absent in 100 healthy controls.
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