What diseases are caused by choline acetyltransferase (ChAT) deficiency?

Choline acetyltransferase deficiency causes congenital myasthenic syndrome.

Choline acetyltransferase (ChAT) is an important transferase enzyme that catalyzes the biosynthesis of acetylcholine (ACh) in the central and peripheral nervous systems. Acetylcholine, a major neurotransmitter in the brain, is responsible for signal transduction at the neuromuscular junction.

Mutations of choline acetyltransferase impacts the synthesis of acetylcholine, resulting in progressive decrease in acetylcholine content of the synaptic vessels during activity. This lowers the safety margin of neuromuscular transmission causing congenital myasthenic syndrome (CMS).

Congenital myasthenic syndrome is a diverse group of disorders resulting from impaired transmission signals from the nerve cells to the muscles. These disorders are characterized by muscle weakness, which may range from a mild exercise intolerance to severe, disabling symptoms. The symptoms often become worse with exertion.