2007 Fiscal Year Final Research Report Summary
Establishment of animal models of lysosomal storage diseases and prevention of those diseases outside the laboratory
| Project/Area Number |
16380210
|
|---|
| Research Category |
Grant-in-Aid for Scientific Research (B)
|
| Allocation Type | Single-year Grants |
|---|
| Section | 一般 |
|---|
| Research Field |
Clinical veterinary science
|
|---|
| Research Institution | Kagoshima University (2006-2007)
Hokkaido University (2004-2005) |
|---|
Principal Investigator |
YANIATO Osamu Kagoshima University, Faculty of Agriculture, Professor (80261337)
|
|---|
| Co-Investigator(Kenkyū-buntansha) |
OCHIAI Kenji Hokkaido University, Graduate School of Veterinary Medicine, Associate Professor (80214162)
ENDO Daiji Rakuno Gakuen University, Faculty of Veterinary Medicine, Professor (40168828)
MATSUKI Naoaki University of Tokyo, Graduate School of Agriculture and Life Sciences, Associate Professor (40251417)
YAMASAKI Masahiro Hokkaido University, Graduate School of Veterinary Medicine, Associate Professor (40322846)
|
|---|
| Project Period (FY) |
2004 – 2007
|
| Keywords | lysosomal storage disease / animal modes / gangliosidosis / ceroid-lipofuscinosis / inherited disease / screening |
|---|
| Research Abstract |
1.GMI gangliosidosis in shiba dogs
The diagnostic method was developed to be more rapid and easier one. Using the method, a molecular survey was performed to start preventive measure in Japan and overseas. The characteristics in MRI imaging in this disease were determined. In addition, the biomarkers in cerebrospinal fluid to show the degree of neurodeneration were determined. Using these biomarkers, it was demonstrated that a glucocorticoid therapy is not efficient for GM1 gangliosidosis.
2. Sandhoff disease in a gorden retriever
The characteristics in MRI imaging in canine Sandhoff disease were determined. However, no mutations were detected in the sequence of exons of canine HEXB gene.
3. Sandhoff disease in Japanese domestic cats
The characteristics in MR1 imaging in feline Sandhoff disease were determined. The causative mutation could be identified in the feline HEXB gene, and the molecular test was developed. The molecular survey suggested that this mutation is widely spread in the Japanese domestic cat population.
4. Ceroid-lipofuscinosis in border collies
The DNA assay was developed and a molecular survey was performed all over Japan in partnership with a civilian organization, Japan Border Collie Health Network. This activity demonstrated that a carrier frequency of this disease is 4 to 5% and the activity can be effective for prevention of this disease.
5.Lysosomal disease in a Japanese black calf
The analysis of storage materials in organs of the calf showed that the Materials might be sialic acids-bound oligosaccharides and GM3 ganglioside. This result suggested that the disease might be galactosialidosis or sialidosis. However, no mutations were found on two genes related to these candidate diseases.
|
Research Products
(33 results)
