1998 Fiscal Year Final Research Report Summary
Distributon and genetic heterogeneity of famillial amyloid polyneuropathy in the east Asian area.
| Project/Area Number |
08670700
|
|---|
| Research Category |
Grant-in-Aid for Scientific Research (C)
|
| Allocation Type | Single-year Grants |
|---|
| Section | 一般 |
|---|
| Research Field |
Neurology
|
|---|
| Research Institution | Shinshu University |
|---|
Principal Investigator |
IKEDA Shu-ichi Department of Medicine, Shinshu University, School of Medicine, Professor, 医学部, 教授 (60135134)
|
|---|
| Co-Investigator(Kenkyū-buntansha) |
TOKUDA Takahiko Department of Medicine, Shinshu University, School of Medicine, Associate, 医学部, 助手 (80242692)
|
|---|
| Project Period (FY) |
1996 – 1998
|
| Keywords | familial amyloid polyneuropathy / amyloid / transthyretin / gene abnormalities |
|---|
| Research Abstract |
Familial amyloid polyneuropathy (FAP) is a hereditary systemic amyloidosis characterized by polyneuropathy with autonomic failure and this disease is caused by transthyretin gene abnormality. Recently. FAP are known to show variable phenotypes and wider geographic distribution but type I FAP with Met30TTR is the most common form of the disease. In this study we investigated FAP families and their gene abnormalites in the east Asian area. To detect many different types of variant TIRs in serum we have developed a new technique using a MALDI/TOF mass spectrometry (MS). We screened the presence or absence of variant TTRs in the sera of patients using this MALDI/TOF MS system and then, we performed DNA sequence of TTR gene in the patients. As a result , we found the following FAP families : a family with Met30TTR and that with Val33TTR in China, a family with Ser97TTR and two families with AIa38TTR in Japan. In the past many FAP kindreds including 12 different types of variant TTR were described in Japan and those with Met30TTR have been reported in Turkey, Vietnam and Indonesia, and a kindred with Val38TTR was also reported in Korea. In addition, a kindred with Pro55 TTR was described in Taiwan. FAP patients are now widely distributed in the different nations of the world and the present study has clearly shown that this disease is more common than previously recognized.
|
Research Products
(6 results)
