The enzyme glutamate decarboxylase is responsible for the synthesis of the essential neurotransmitter gamma-aminobutyric acid from L-glutamic acid. GAD1 and GAD2 are expressed in nervous and endocrine systems and are thought to be involved in synaptic transmission and insulin secretion, respectively. Autoantibodies against GAD2 may serve as markers for type I diabetes. Many individuals suffering from an adult onset disorder known as Stiff Person Syndrome also express autoantibodies to GAD2.Mutations in the GAD1 gene can cause autosomal recessive spastic cerebral palsy, possibly attributable to altered glutamate/GABA ratios.
[1] Kaufman, D.L. et al. (1991) J Neurochem 56, 720-3.
[2] Feldblum, S. et al. (1993) J Neurosci Res 34, 689-706.
[3] Gao, B. and Moore, R.Y. (1996) J Biol Rhythms 11, 172-9.
[4] Rubi, B. et al. (2001) J Biol Chem 276, 36391-6.
[5] Gilliam, L.K. et al. (2004) Clin Exp Immunol 138, 337-41.
[6] Skorstad, G. et al. (2008) Eur J Neurol 15, 973-80.
[7] Lynex, C.N. et al. (2004) BMC Neurol 4, 20.
