Faculty Mentor

Dr. Elaine Vanterpool

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Description

Dilated cardiomyopathy (DCM) is characterized by severe damage to the heart muscle. The left ventricle becomes enlarged and then thins, causing it to pump with less force than it should. After each beat, more blood remains in the heart, making it challenging for the heart to supply blood to other parts of the body. If the patient is younger than 50, Black, male, and has a family history of dilated cardiomyopathy, they may be at higher risk. DCM has various causes, including coronary artery disease, diabetes, heart attacks, and high blood pressure. However, one of the major causes of DCM is genetic mutation; more than 50% of patients diagnosed with DCM have hereditary cardiomyopathy. Scientists predict that DCM is a known monogenic disorder that is primarily transmitted as an autosomal dominant trait. However, autosomal recessive, X-linked, or mitochondrial inheritance patterns may also play a role. This research will focus on the mutation of the SCO2 gene. This gene has been recently linked to fatal infantile cardioencephalomyopathy and severe COX deficiencies in both heart and skeletal muscle. Most patients diagnosed with a SCO2 mutation exhibit a deficiency of Cytochrome c Oxidase (COX), the terminal enzyme complex of the mitochondrial electron transport chain. This enzyme transfers electrons from cytochrome c to molecular oxygen and pumps protons across the inner mitochondrial membrane.

Publication Date

4-1-2025

City

Huntsville

Disciplines

Biology

Comments

Mitspah Eshette, Student Researcher

An Analysis of SCO2 Variants Associated with Dilated Cardiomyopathy

Included in

Biology Commons

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