1996 Fiscal Year Final Research Report Summary
Molecular cell biological research on CAG repeat disease
| Project/Area Number |
07457153
|
|---|
| Research Category |
Grant-in-Aid for Scientific Research (B)
|
| Allocation Type | Single-year Grants |
|---|
| Section | 一般 |
|---|
| Research Field |
Neurology
|
|---|
| Research Institution | The University of Tokyo |
|---|
Principal Investigator |
KANAZAWA Ichiro Faculty of Medicine Professor, 大学院・医学系研究科, 教授 (30110498)
|
|---|
| Co-Investigator(Kenkyū-buntansha) |
GOTO Jun The University of Tokyo Hospital assistant professor, 医学部・附属病院, 助手 (10211252)
NUKINA Nobuyuki The University of Tokyo Faculty of Medicine associated professor, 大学院・医学系研究科, 助教授 (10134595)
|
|---|
| Project Period (FY) |
1995 – 1996
|
| Keywords | Huntington disease / Machado-Joseph disease / CAG repeat disease / DRPLA / Gene expression |
|---|
| Research Abstract |
In the CAG repeat expansion diseases, Huntington's disease(HD), dentatorubraland pallidoluysian atrophy(DRPLA)and Machado-Josepg disease(MJD)were investigated from the molecular cell biological points of view.
1)The causal gene for HD is located on the short arm of the chromosome 4. HD patients have expanded CAG repeat allell of 38-98, whereas 9-28 in normals. Based on the haplotype analysis, the Japanese HD was approved to have at least two separate origins. By using specific antibody against huntingtin, it was revealed that the protein having abnormally long glutamine chain was actually expressed.
2) DRPLA patients have expanded CAG repeat allell of 53-88, whereas 7 -23 in normals. With the technique of Western analysis using specific antibody to the DRPLA gene product, the abnormal protein with abnormally long glutamine stretch was revealed to be ubiquitously expressed in neurons.
3)Expression of mRNA for MJD gene was found to be ubiquitous in the human central nervous system, when investigated with the technique of in situ hybridization using an antisense probe. There was no clear difference in terms of the expression pattern of mRNA for MJD gene.
|
-
-
-
-
-
-
-
-
[Publications] Yanagisawa H., Fujii K., Nagafuchi S., Nakahori Y., Nakagome Y., Akane A., Nakamura M., Sano A., Komure O., Kondo I., Jin DK., Sorensen SA., Potter NT.Young SR., Nakamura K., Nukina N., Nagao Y., Tadokoro K., Okuyama T., Miyashita T., Inoue T., Kanazawa I.and Yamada M.: "A unique origin and multistep process for the generation of expanded DRPLA triplet repeats." Human Molecular Genetics. 5(3). 373-379 (1996)
Description
「研究成果報告書概要(欧文)」より
-
-
-
-
[Publications] Hodgson JG., Smith DJ., McCutcheon K., Koide HB., Nishiyama K., Dinulos MB., Stevens ME., Bissada N., Nasir J., Kanazawa I., Disteche CM., Rubin EM.and Hayden MR.: "Human huntingtin derived from YAC transgenes compensates for loss of murine huntingtin by rescue of the embryonic lethal phenotype." Human Molecular Genetics. 5(12). 1875-1885 (1996)
Description
「研究成果報告書概要(欧文)」より
