SELM
The SELM Gene: A Guardian of Mitochondrial Health
Description
The SELM gene provides instructions for making a protein called selenoprotein M. This protein is an essential component of the mitochondrial respiratory chain, which generates energy for the cell. Selenoprotein M also plays a crucial role in protecting mitochondria from oxidative stress and damage.
Associated Diseases
Mutations in the SELM gene have been linked to a range of mitochondrial disorders, including:
- Kearns-Sayre syndrome: A rare genetic disorder characterized by muscle weakness, heart problems, and visual impairment.
- Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS): A multi-system disorder that affects the brain, muscles, and other organs.
- Leigh syndrome: A severe neurodegenerative disorder that affects infants and young children.
Did you Know ?
Approximately 1 in 50,000 people worldwide carry a mutation in the SELM gene. However, only a small percentage of these individuals develop symptoms of mitochondrial disease.
