Molecular analysis of the inherited metabolic diseases---Mucopolysaccharidoses, Mitochondrial acetoacetyl-CoA thiolase deficiency and Peroxisomal diseases--

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1.Several mutations in MPSII IVA and VII patients have first identified. The genomic structure for GALNS gene has been determined. Molecular analysis of MPSVII patients were performed cooperatively and extensively with prof. Sly's group and 12 different mutations were identified. Nearly 100 MPSIVA patients were supplied by international cooperative study, 45 various kinds of mutations have been defined ; especialy common double gene deletion found on Japanese ancestry and common missense mutation in Caucasian ancestry were noted.2.Molecular basis of beta-ketothiolase deficiency has been analyzed in 21 patients. We will report 17 mutations and findings in 13 patients in Mutation Update, a areview article. We discovered a phenomenon that an exonic mutatioon caused the exon skipping and the result was published in J.Clin.Invest..Other findngs were reported in three papers in Hum. Mutat. and a paper in Prenatal Diagnosis. We also cloned human cDNA for cytosolic acetoacetyl-CoA thiolase with anti-human cytosolic thiolase antibody and publishied it in BBRC.3.cDAN for human peroxisomal acyl-CoA oxidase was cloned and pathogenic gene mutation was identified in siblings with acyl-CoA oxidase deficiency. Several gene nutations were identified in patients with adrenoleukodystrophy. Chromosomal localization of PAF-1, the pathogenic gene for group F Zellweger syndrome, was determined to be 8q21.1 Gene mutations were identified in 3 group F patients. A candidate gene for group C Zellweger syndrome has been cloned recently.