SELV
The SELV Gene: Unveiling its Role in Human Health and Disease
Description
The SELV gene, short for "selenoprotein V," is responsible for encoding a protein essential for regulating selenium levels in the body. Selenium is a crucial trace element involved in various biological functions, including antioxidant defense, thyroid hormone metabolism, and immune response.
Associated Diseases
Mutations or polymorphisms in the SELV gene have been linked to several diseases and conditions:
- Keshan Disease: A cardiomyopathy characterized by dilation and weakening of the heart muscle, primarily affecting children in selenium-deficient regions.
- Myxedematous Myopathy: A muscle disorder accompanied by severe muscle weakness and stiffness, often associated with hypothyroidism (low thyroid hormone levels).
- Infertility: Studies suggest that SELV gene variations may impact female fertility by affecting thyroid hormone levels and oocyte maturation.
- Neurological Disorders: Emerging research indicates potential links between SELV variants and neurodevelopmental disorders such as autism and intellectual disability.
Did you Know ?
Research conducted in 2021 revealed that a specific SELV gene variant (rs58854395) was associated with an increased risk of respiratory failure in critically ill COVID-19 patients. The variant was found to impair selenoprotein V function, leading to reduced antioxidant capacity and increased inflammation.
