An Analysis of SCO2 Variants Associated with  Dilated Cardiomyopathy

An Analysis of SCO2 Variants Associated with Dilated Cardiomyopathy

Elaine Vanterpool, Oakwood University
Mitspah Eshette, Oakwood University

Description

Dilated cardiomyopathy (DCM) is a condition in which the heart becomes enlarged and cannot pump blood effectively. DCM affects an estimated 25-35% of individuals have familial forms of the disease, with most mutations affecting genes encoding cytoskeletal proteins, while some affect other proteins involved in contraction. The disease is genetically heterogeneous, but the most common form of its transmission is autosomal. This study's purpose is to identify and assess the pathogenicity of the synthesis of cytochrome C Oxidase (SCO2) variants associated with DCM.