1987 Fiscal Year Final Research Report Summary
Molecular and biochemical analysis of inherited degernerative brain disorder
| Project/Area Number |
61480223
|
|---|
| Research Category |
Grant-in-Aid for General Scientific Research (B)
|
| Allocation Type | Single-year Grants |
|---|
| Research Field |
Pediatrics
|
|---|
| Research Institution | Department of Pediatrics, Tokyo Jikei University School of Medicine |
|---|
Principal Investigator |
ETO Yoshikatsu Tokyo Jikei University School of Medicine, 医学部, 助教授 (50056909)
|
|---|
| Co-Investigator(Kenkyū-buntansha) |
IDA Hiroyuki Department of Pediatrics, Tokyo Jikei University School of Medicine, 医学部, 助手 (90167255)
TAHARA Takahiro Department of Pediatrics, Tokyo Jikei University School of Medicine, 医学部, 助手 (80159029)
KANAMOTO Yurie Department of Pediatrics, Tokyo Jikei University School of Medicine, 医学部, 助手 (80130160)
TOYODA Shigeru Department of Pediatrics, Tokyo Jikei University School of Medicine, 医学部, 助手 (90110931)
ITO Fumiyuki Department of Pediatrics, Tokyo Jikei University School of Medicine, 医学部, 講師 (10057010)
|
|---|
| Project Period (FY) |
1986 – 1987
|
| Keywords | Krabbe's disease / psychosine / Gaucher's disease / DNA診断 |
|---|
| Research Abstract |
The biochemical and genetic analysis of familial leukodystrophy have been explored.
1) Pathogenesis of brain damage in Krabbe's globoid cell leukodystrophy.
Identification of cytotoxic compound was determined by cultured skin fibroblasts and neuronal cell cultures. Add psychosine in the cells and chased morphological features. Data suggest that psychosine is toxic to mitochonrial membrane and may relate to the pathogenesis of Krabbe's disease.
2) Gene analysis of Japanese Gaucher' disease.
Gene analysis of japanese gaucher's disease was studied by leukocytes of five patients with infantile type and juvenile type of japanese Gaucher's disease. Pvu II and Kpn I digestion provided polymorphyism of glucocerebrosidase by c-DNA of beta-glucosidase in one family of juvenile type of Gaucher's disease.
|
