2006 Fiscal Year Final Research Report Summary
Clinical and Genetic studies of autosomal dominant cerebellar ataxia (Miyakonojo type)
| Project/Area Number |
17590885
|
|---|
| Research Category |
Grant-in-Aid for Scientific Research (C)
|
| Allocation Type | Single-year Grants |
|---|
| Section | 一般 |
|---|
| Research Field |
Neurology
|
|---|
| Research Institution | Kagoshima University |
|---|
Principal Investigator |
OHKUBO Ryuichi Kagoshima University, Medical and Dental Hospital, Research Associate, 医学部・歯学部附属病院, 助手 (50381166)
|
|---|
| Co-Investigator(Kenkyū-buntansha) |
TAKASHIMA Hiroshi Kagoshima University, Graduate School of Medical and Dental Sciences, Research Associate, 大学院医歯学総合研究科, 助手 (80372803)
ARIMURA Kimiyoshi Kagoshima University, Graduate School of Medical and Dental Sciences, Associate professor, 大学院医歯学総合研究科, 助教授 (20159510)
MATSUYAMA Wataru Kagoshima University, Graduate School of Medical and Dental Sciences, Research Associate, 大学院医歯学総合研究科, 助手 (90372804)
|
|---|
| Project Period (FY) |
2005 – 2006
|
| Keywords | spinocerebellar degeneration / linkage analysis / Puratrophin / SCA4 / 1Gq ADCA type III |
|---|
| Research Abstract |
The autosomal dominant cerebellar ataxias (ADCAs) are a clinically and genetically heterogeneous group of disorders. Despite phenotypic differences, SCA4 and Japanese 16q-linked ADCA type III map to the same region of 16q22.1. We reported three Miyakonojo and one Kagoshima families with pure cerebellar ataxia and a disease locus at 16q22.1. Our fine linkage data suggest that the disease locus for 16q-ADCA type III is within the 1.25Mb interval delineated by markers 17msm and CTTT01. We also screened for mutations in all genes within the critical region. In 2005, Puratrophin locates critical region has been reported as a possible cause of 16q-ADCA type III. We screened the mutation in all families linked to chromosome 16; all patients had Puratrophin mutation in the 5'UTR. Although four patients had homozygous Puratrophin mutation, their clinical severities and onset ages were difficult to distinguish from the findings of patients with heterozygous mutation. In addition, our micro array and real time I'CR studies revealed the expressions of Puratrophin mRNA were not decreased in their lymphocytes from both heterozygous and homozygous patients. These finding suggest the mutation of Puratrophin should be just one of the polymorphism. To identify real cause of 16q-ADCA type III, we screened micro deletion or duplication in critical region by CGH array. However, we did not detect micro deletion or duplication.
|
Research Products
(12 results)
