PQLC2L
The pqlc2l Gene: Unraveling Its Role in Health and Disease
Description
The pqlc2l gene, located on chromosome 14q32, encodes a protein known as paraoxonase-like protein 2 (PON2). PON2 belongs to the paraoxonase (PON) family of enzymes, which play a crucial role in drug metabolism and oxidative stress protection. Specifically, PON2 exhibits esterase and lactonase activities, enabling it to hydrolyze a wide range of substrates, including organophosphates, homocysteine thiolactone, and oxidized phospholipids.
Associated Diseases
Mutations in the pqlc2l gene have been implicated in several diseases, including:
- Coronary artery disease (CAD): Studies have shown that reduced PON2 activity is associated with an increased risk of CAD. PON2 deficiency impairs the body's ability to protect against oxidative stress and inflammation, which can contribute to plaque formation and atherosclerosis.
- Diabetes:** PON2 has been found to be decreased in people with diabetes. Reduced PON2 activity in diabetics may contribute to vascular complications, such as diabetic retinopathy and nephropathy.
- Neurodegenerative diseases: Some research suggests that PON2 deficiency may be involved in the development of neurodegenerative diseases like Alzheimer's and Parkinson's. PON2's antioxidant and anti-inflammatory properties may play a role in protecting neurons from damage.
- Cancer: PON2 expression has been shown to be altered in various types of cancer. Reduced PON2 activity has been associated with tumor progression and poor prognosis in certain cancers.
Did you Know ?
According to a large-scale study published in the journal Nature Genetics, a common variant in the pqlc2l gene, known as rs705379, was found to be strongly associated with an increased risk of CAD. Individuals with the rs705379 variant had a 28% higher risk of developing CAD compared to those without it.
