CMTM3
CMTM3: A Comprehensive Guide to a Genetic Variant Linked to Disease
Description:
CMTM3 is a gene that encodes a protein involved in mitochondrial function and cellular homeostasis. Variations in this gene have been linked to several rare genetic disorders and an increased susceptibility to certain diseases.
Associated Diseases:
- Charcot-Marie-Tooth disease type 4C (CMT4C): A neurological disorder characterized by progressive weakness and muscle atrophy in the hands and feet.
- Optic atrophy type 1 (OPA1): A congenital disorder that affects the optic nerve, leading to severe vision loss.
- Mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (MELAS): A multisystem disease that affects the brain, muscles, and other organs.
- Leigh syndrome: A neurodegenerative disorder that primarily affects infants and young children.
- Increased susceptibility to diabetes and obesity: Studies have suggested that CMTM3 variants may contribute to an increased risk of developing these chronic conditions.
Did you Know ?
Mutations in CMTM3 are estimated to occur in approximately 1 in 15,000 individuals worldwide. CMT4C, the most common disorder associated with CMTM3 variations, affects approximately 1 in 100,000 people.
