GUCY1A3
Gucy1a3: A Key Player in Cardiovascular Health and Disease
Introduction
Gucy1a3 (guanine cyclase 1A3) is an enzyme that plays a crucial role in regulating blood pressure and cardiovascular health. This enzyme is found in the inner lining of blood vessels and is responsible for synthesizing cyclic guanosine monophosphate (cGMP), a molecule that relaxes blood vessels.
Associated Diseases
Dysregulation of Gucy1a3 has been linked to several cardiovascular diseases, including:
- Pulmonary arterial hypertension (PAH): The most common form of PAH is associated with mutations in the Gucy1a3 gene. These mutations lead to reduced production of cGMP, resulting in vasoconstriction and increased blood pressure in the lungs.
- Heart failure: Gucy1a3 plays a protective role in heart failure. Reduced Gucy1a3 levels or activity can lead to impaired relaxation of blood vessels, reduced cardiac output, and eventual heart failure.
- Stroke: Gucy1a3 is involved in the regulation of brain blood flow. Alterations in Gucy1a3 expression or function can contribute to stroke risk.
- Aortic aneurysm: Gucy1a3 deficiency has been associated with the development of aortic aneurysms, characterized by a weakened and enlarged aorta.
Did you Know ?
Approximately 1 in 200,000 people worldwide are affected by PAH, with women being more commonly affected than men. Mutations in the Gucy1a3 gene account for about 60-75% of familial cases of PAH.
