A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome
- 180 Downloads
We have examined the molecular basis of Segawa's syndrome in six families with seven affected children. In one family two siblings with this disease carried a point mutation in exon 11 of the tyrosine hydroxylase gene, resulting in an amino acid exchange of Gln381 to Lys381. These results suggest that a change in tyrosine hydroxylase causes this form of Segawa's syndrome.
KeywordsInternal Medicine Tyrosine Metabolic Disease Point Mutation Molecular Basis
Unable to display preview. Download preview PDF.
- Bartholomé K (1983) Deficiency of tyrosine hydroxylase or tryptophan hydroxylase: a possible cause of two hypothetical metabolic diseases. Acta Paediatr Scand 72:921–922Google Scholar
- Egeland JA, Gerhard DS, Pauls DL, Sussex JN, Kidd KK, Allen CR, Hostetter AM, Housman DE (1987) Bipolar affective disorders linked to DNA markers on chromosome 11. Nature 325:783–787Google Scholar
- Fletcher NA, Holt IJ, Harding AE, Nygaard TG, Mallet J, Marsden CD (1989) Tyrosine hydroxylase and levodopa responsive dystonia. J Neurol Neurosurg Psychiatry 52:112–114Google Scholar
- Görke W, Bartholomé K (1990) Biochemical and neurophysiological investigation in two forms of Segawa's disease. Neuropediatrics 21:3–8Google Scholar
- Grima B, Lamouroux A, Boni C, Julien J-F, Jaroy-Agid F, Mallet J (1987) A single human gene encoding multiple tyrosine hydroxylases with different predicted functional characteristics. Nature 326:707–711Google Scholar
- Lerman LS, Silverstein K (1987) Computational simulation of DNA melting and its application to denaturing gradient gel electrophoresis. Methods Enzymol 155:482–501Google Scholar
- Myers RM, Maniatis T, Lerman LS (1987) Detection and localization of single base changes by denaturing gradient gel electrophoresis. Methods Enzymol 155:501–527Google Scholar
- Nagatsu T, Ichinose H (1991) Comparative studies on the structure of human tyrosine hydroxylase with those of the enzyme of various mammals. Comp Biochem Physiol C 98:203–210Google Scholar
- Nygaard TG, Wilhelmsen KC, Risch NJ, Brown DL, Trugman JM, Gilliam TC, Fahn S, Weeks DE (1993) Linkage mapping of the dopa-responsive dystonia (DRD) to chromosome 14q. Nature Genet 5:386–391Google Scholar
- Polymeropoulus MH, Xiao H, Rath DS (1991) Tetranucleotide repeat polymorphism at the human tyrosine hydroxylase gene (TH). Nucleic Acids Res 19:3753Google Scholar
- Segawa M, Ohmi K, Itoh S (1971) Childhood basal ganglia disease with remarkable response to l-DOPA, “hereditary basal ganglia disease with marked diurnal fluctuations”. Therapie 24:667–672Google Scholar