2002 Fiscal Year Final Research Report Summary
Research for hereditary neuropathy caused by desert hedgehog gene mutation
| Project/Area Number |
13670658
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Neurology
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| Research Institution | Kagoshima University |
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Principal Investigator |
UMEHARA Fujio Kagoshima University, Graduate School of Medical and Dental Sciences, Assistant professor, 大学院・医歯学総合研究科, 講師 (20271140)
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| Co-Investigator(Kenkyū-buntansha) |
OSAME Mitsuhiro Kagoshima University, Graduate School of Medical and Dental Sciences, Professor, 大学院・医歯学総合研究科, 教授 (10041435)
NAKAGAWA Masanori Kyoto Prefectural University, Faculty of Medicine, Professor, 医学部, 教授 (50198040)
TATE Genshu Showa University, Faculty of Medicine, Assistant professor, 医学部, 講師 (10216997)
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| Project Period (FY) |
2001 – 2002
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| Keywords | Desert hedgehog / Gonadal dysgenesis / Hereditary neuropathy / minifascicle / Transgenic mouse |
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| Research Abstract |
1) Role of Desert hedgehog in development and differentiation of perineurium
We confirmed expression of mRNA of Desert hedgehog (Dhh), and patched 2 in peripheral nerves of wild type mice. Expression of these molecules decreased after nerve injury, then gradually increased in regenerating phase. These results suggest that Dhh-Patched 2 pathway may play and role of maintenance of perineurium, and regeneration.
2) Role of Dhh in the central nervous system
We have analyzed motor, sensory, memory and emotional function of Dhh knockout mice. As a result, Dhh knockout mice had emotional disorders (depression and anxiety). These results suggest that Dhh may be associated with emotion.
3) Establishment of the new disease concept: Minifascicular neuropathy with gonadal dysgenesis
We found the second case of minifascicular neuropathy with 46, XY gonadal dysgenesis.
4) Dhh transgenic mice
We succeeded in development of Dhh transgenic mice/
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