ACSM2B
acsm2b
Description
ACSM2B is a gene that encodes a protein called acyl-CoA synthetase medium chain family member 2B. This protein is involved in the metabolism of fatty acids, which are essential components of cell membranes and energy storage. ACSM2B is located on chromosome 11 and is highly expressed in the liver, heart, and skeletal muscle.
Associated Diseases
Mutations in the ACSM2B gene have been linked to several diseases, including:
- Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS): This condition is characterized by episodes of stroke-like symptoms, seizures, and muscle weakness. It is caused by mutations in the mitochondrial DNA, which is responsible for energy production in cells. ACSM2B mutations can contribute to MELAS by disrupting fatty acid metabolism and impairing energy production.
- Hypertrophic cardiomyopathy (HCM): This is a condition in which the heart muscle becomes enlarged and thickened. It is one of the most common inherited heart diseases and can lead to heart failure and sudden cardiac death. Mutations in ACSM2B have been identified in some patients with HCM, although their role in the development of the disease is not fully understood.
- Autism spectrum disorder (ASD): ASD is a complex neurodevelopmental disorder that affects social interaction and communication. Studies have suggested that mutations in ACSM2B may be associated with an increased risk of ASD, but more research is needed to confirm this link.
Did you Know ?
Approximately 1 in 500 people carry a mutation in the ACSM2B gene. However, only a small percentage of these individuals develop symptoms of MELAS or HCM. This suggests that other factors, such as environmental triggers or genetic modifiers, may be necessary to trigger the onset of these diseases.
