Faculty Mentor

Dr. Elaine Vanterpool

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Description

The PON1 gene encodes for paraoxonase 1, an enzyme that plays a crucial role in the breakdown of organophosphates and the prevention of oxidative damage to lipids, particularly those in low-density lipoprotein (LDL). PON1 is primarily associated with high-density lipoprotein (HDL), often called "good cholesterol," and is involved in antioxidant defense mechanisms. Cardiovascular Disease (CVD): The relationship between PON1 and cardiovascular disease has been a subject of considerable research. Variations in the PON1 gene and its product, paraoxonase 1, are important in modulating the risk of cardiovascular disease. The gene’s polymorphisms and their impact on enzyme activity may influence individual susceptibility to oxidative damage and atherosclerosis, making PON1 a key player in cardiovascular health. Cardiovascular Disease (CVD) includes conditions affecting the heart and blood vessels and is a leading cause of death globally. Risk factors such as high blood pressure, diabetes, and high cholesterol contribute to CVD, with genetic factors also playing a significant role. One gene implicated in CVD is PON1, which encodes paraoxonase 1, an enzyme that breaks down lipid peroxides and prevents oxidative stress in the cardiovascular system The ClinVar database was used to identify PON1 as a gene linked to CVD and analyze its variants. Computational tools like PolyPhen-2 and SIFT assessed the pathogenicity of these variants.

Publication Date

4-1-2025

City

Huntsville

Disciplines

Biology

Comments

Adaiah Murray, Student Research

An Analysis of PON1 Variants Associated with Cardiovascular Disease (CVD)

Included in

Biology Commons

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