DMRTC2
dmrtc2: The Hidden Cause of Rare Mitochondrial Diseases
Description:
dmrtc2, short for demethyltransferase 2, is a crucial enzyme involved in mitochondrial DNA (mtDNA) maintenance and metabolism. Mutations in the dmrtc2 gene can lead to a group of rare and debilitating mitochondrial diseases known as dmrtc2-related disorders. These disorders affect different parts of the body, including the central nervous system, heart, liver, kidneys, and muscles.
Associated Diseases:
Mutations in the dmrtc2 gene have been linked to a wide range of mitochondrial diseases, including:
- Mitochondrial cardiomyopathy (DCM): Weakening of the heart muscle, leading to heart failure.
- Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS): A neurological disorder characterized by seizures, strokes, and lactic acidosis.
- Leber's hereditary optic neuropathy (LHON): Loss of vision due to damage to the optic nerve.
- Mitochondrial myopathy with lactic acidosis: Muscle weakness and fatigue due to impaired energy production in muscles.
- Mitochondrial sideroblastic anemia: Anemia caused by impaired heme synthesis.
Did you Know ?
dmrtc2-related disorders are estimated to affect approximately 1 in 100,000 individuals worldwide. However, due to the rarity of these conditions, the actual prevalence may be underestimated.
