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- CLINICA NEUROL, 47: 735－738, 2007
- Vol.47 No.11 contents
The 48th Annual Meeting of the Japanese Society of Neurology
Identification of the causative gene for Segawa's disease
Hiroshi Ichinose, Ph.D. and Toshiharu Nagatsu, M.D., Ph.D.
Tokyo Institute of Technology, Graduate School of Bioscience and Biotechnology
Fujita Health University School of Medicine
In 1994, we identified the GTP cyclohydrolase I (GCH) gene, an enzyme for biosynthesis of tetrahydrobiopterin, as the causative gene for Segawa's disease. On the way of our research, both biochemical and molecular biological approaches were essential. We could measure biopterin and the GCH activity, since we had worked on catecholamine- and biopterin-synthesizing enzymes for many years. The measurements of the GCH activity in mononuclear blood cells made us confident that GCH could be a causative gene for the disease, while the chromosomal locus of the GCH gene was the beginning of the idea. The research was greatly accelerated by efficient collaboration among many researchers including Dr. Segawa, and we deeply appreciate their collaboration. Although the causative gene for Segawa's disease had been identified, there remain several important issues to be addressed. Presence of asymptomatic carriers, who have the same mutation in the GCH gene as the patients, suggests involvement of other factors for development of symptoms. The factors shall be associated with a female-predominance of the disease.
(CLINICA NEUROL, 47: 735－738, 2007)
key words: biopterin, GTP cyclohydrolase I, candidate gene, asymptomatic carrier
(Received: 16-May-07)
