[Molecular studies of Gaucher disease]

Gaucher disease is characterized by a deficiency of glucocerebrosidase and hence the accumulation of glucocerebroside in visceral organs such as liver and spleen. Clinically, this disorder can be classified into three types according to clinical phenotype; types I, II and III. More than 50 different gene mutations have been reported previously in the world. Gene mutations in the Japanese showed that the most common mutations are LEU444Pro and Phe313Ileu mutations, accounting for about 40% and 10% of the total alleles, respectively. In the Japanese, there were no mutations in N370S and 84GG among the Japanese. Gaucher disease is recently treated by the administration of purified placental glucocerebrosidase. Aided by the Japanese Ministry of Welfare, six patients with Gaucher disease have been under treatment for almost two years. All cases responded to this treatment as seen in Hb value, platelet count, plasma acid phosphatase value, ACE value, and size of liver and spleen. Gene therapy for Gaucher disease is also currently under consideration.