LEPRE1
Lepre1 Gene: A Guardian Against Cardiovascular Disease
Description
The Lepre1 gene, located on chromosome 19, plays a crucial role in regulating cholesterol metabolism. It encodes a protein called low-density lipoprotein receptor-related protein 1 (LRP1), which binds to and clears low-density lipoprotein (LDL) particles, the "bad" cholesterol, from the bloodstream. By preventing LDL retention in the arteries, LRP1 helps maintain healthy cholesterol levels and reduces the risk of cardiovascular disease.
Associated Diseases
Mutations in the Lepre1 gene are linked to several inherited disorders, including:
- Familial Hypercholesterolemia (FH): FH is a rare genetic condition characterized by extremely high LDL cholesterol levels. People with FH have an increased risk of heart attack and stroke at a young age.
- Familial Defective ApoB-100: This disorder affects the production of the protein ApoB-100, which is responsible for transporting cholesterol in LDL particles. LRP1 mutations impair the removal of defective ApoB-100-containing LDL, leading to high cholesterol levels and an increased risk of cardiovascular disease.
- Familial Combined Hyperlipidemia (FCHL): FCHL is a common genetic condition that involves elevated levels of LDL and other types of cholesterol. LRP1 mutations contribute to the dysregulation of cholesterol metabolism in FCHL.
Did you Know ?
Research indicates that:
- Individuals with a rare variant in the Lepre1 gene have a 50% lower risk of developing heart disease compared to those without the variant.
