MUT
Title: MUT: The Essential Mutation for Human Health
Description:
MUT, also known as methylmalonyl-CoA mutase, is a crucial enzyme involved in the metabolism of amino acids and lipids. It plays a vital role in energy production, cell growth, and development. Mutations in the MUT gene can lead to a range of metabolic disorders, including methylmalonic acidemia (MMA) and homocystinuria.
Associated Diseases:
- Methylmalonic acidemia (MMA) is a rare inherited metabolic disorder caused by MUT mutations. MMA results in the accumulation of methylmalonic acid in the body, which can lead to severe neurological damage, mental retardation, and developmental delays.
- Homocystinuria is another inherited metabolic disorder associated with MUT mutations. Homocystinuria causes an increase in blood levels of homocysteine, an amino acid that can damage blood vessels and increase the risk of blood clots, stroke, and heart disease.
Did you Know ?
MUT mutations are estimated to affect approximately 1 in 50,000 newborns worldwide. The incidence of MMA is higher in certain regions, such as the Middle East, due to founder effects and consanguineous marriages.
