Article
Polymorphic variants at NDUFC2, encoding a mitochondrial complex I subunit, associate with cardiac hypertrophy in human hypertension.
Molecular medicine (Cambridge, Mass.) - 9 Aug 2023
Gallo Giovanna, Forte Maurizio, Cotugno Maria, Marchitti Simona, Stanzione Rosita, Tocci Giuliano, Bianchi Franca, Palmerio Silvia, Scioli Mariarosaria, Frati Giacomo, Sciarretta Sebastiano, Barbato Emanuele, Volpe Massimo, Rubattu Speranza
Abstract excerpt
BACKGROUND: A dysfunction of NADH dehydrogenase, the mitochondrial Complex I (CI), associated with the development of left ventricular hypertrophy (LVH) in previous experimental studies. A deficiency of Ndufc2 (subunit of CI) impairs CI activity causing severe mitochondrial dysfunction. The T allele at NDUFC2/rs11237379 variant associates with reduced gene expression and impaired mitochondrial function. The...
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