1995 Fiscal Year Final Research Report Summary
Studies of Gene Abnormalities, Protein Abnormalities, and Their Phenotypes in Lysosomal Diseases.
| Project/Area Number |
06670818
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| Research Category |
Grant-in-Aid for General Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Research Field |
Pediatrics
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| Research Institution | Osaka City University |
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Principal Investigator |
TANAKA Akemi Osaka City University, Medical Lecturer, 医学部, 講師 (30145776)
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| Project Period (FY) |
1994 – 1995
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| Keywords | beta-hexosaminidase / alphasubunit / betasubunit / Japanese major mutation / Tay-Sachs disease / Sandhoff disease |
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| Research Abstract |
beta-Hexosaminidase, alphasubunit :
We found a mutation in the gene of beta-hexosaminidase, alphasubunit and named it Japanese major mutation in 1993. This mutant allele accounted for 80% of the alleles of 26 Japanese patients with infantile form of Tay-Sachs diseae. Moreover, the mutation is limited in Japanese and the carrier frequency of this mutant allele was one to 150 persons in Japan.
The allele with the Japanase major mutation produced a stable but short mRNA with skipping of exon 6, and the alphasubunit polypeptide did not associete with the normal beta subunit polypeptide.
beta-Hexosaminidase, betasubunit :
The number of the patients with the betasubunit abnormalities is less than that with the alphasubunit abnormalities in Japan. The mutations in betasubunit gene reported so far are not so many compared with that of alphasubunit gene in the world.
We characterized two mutatons of betasubunit gene in four Japanese patients with sandhoff disease (betasubunit gene abnormality). One of them was the same mutation which was found in a Japanese patient with a juvenile form of the disease. The reason why they show the different clinical pictures with the same genotype is being studied further.
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