ABAT : 4-aminobutyrate aminotransferase

The ABAT Gene and GABA: Maintaining Brain Harmony

Description:

At the heart of every cell resides a symphony of genes, each carrying instructions for vital functions. Among these, the ABAT gene stands out for its unique role in orchestrating the balance within our brains. It holds the blueprint for creating an enzyme known as GABA-transaminase, an essential player in managing the levels of a crucial brain chemical called GABA.

Associated Diseases:

When the ABAT gene malfunctions, it can disrupt the delicate equilibrium of GABA, leading to a range of neurological conditions. These include:

• Succinic semialdehyde dehydrogenase deficiency (SSADHD): A rare inherited disorder marked by seizures, developmental delays, and intellectual disability.
• Hyper-gamma-aminobutyric aciduria (HGABA): A condition characterized by elevated GABA levels, causing seizures, hypotonia, and feeding difficulties.
• West syndrome: A severe form of epilepsy typically seen in infants, often linked to mutations in the ABAT gene.

Did you Know ?

Research suggests that GABA abnormalities, potentially influenced by ABAT gene variations, may contribute to the development of up to 30% of epilepsy cases.