TH mutations in dopa-responsiv dystonia

Tyrosine hydroxylase (TH) catalyze the conversion of L-tyrosine to L-dihydroxyphenylalanine (L-dopa), the rate-limiting step in the biosynthesis of the catecholamines dopamine, norepinephrine and epinephrine. We have developed a mutation screening method using denaturing gradient gel electrophoresis (DGGE) for rapid analysis for mutations in the coding sequence of the TH gene. We have identified the mutations in 9 patients suffering from TH deficiency due to TH mutations. The major part of the mutations affect conserved residues located in the catalytic domain of the Tyrosine hydroxylase, but also residues locat…