| Project/Area Number |
11670793
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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 |
Pediatrics
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| Research Institution | The Jikei University School of Medicine |
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Principal Investigator |
SUGAMA Seiichi Jikei Univ., Dept.of Pediatrics senior investigator, 医学部, 助手 (10154452)
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| Co-Investigator(Kenkyū-buntansha) |
HASEGAWA Yoriyasu Jikei Univ., Dept.of Pediatrics senior investigator, 医学部, 助手 (60256435)
OHASHI Touya Jikei Univ., Dept.of Pediatrics assi prof., 医学部, 講師 (60160595)
IDA Hiroyuki Jikei Univ., Dept.of Pediatrics assi prof., 医学部, 講師 (90167255)
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| Project Period (FY) |
1999 – 2000
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| Project Status |
Completed (Fiscal Year 2000)
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| Budget Amount *help |
¥3,500,000 (Direct Cost: ¥3,500,000)
Fiscal Year 2000: ¥1,500,000 (Direct Cost: ¥1,500,000)
Fiscal Year 1999: ¥2,000,000 (Direct Cost: ¥2,000,000)
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| Keywords | gene therapy / neurophic factor / genotype / MLD / Krabbe病 |
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| Research Abstract |
The central nervous involvement in inborn errors of metabolism results from demyelination and degeneration of neurons. Metachromatic leukodytrophy (MLD) is caused by arylsufatase A defect and characterized by massive demyelination. Adult patients with MLD are rare and manifest psychatric symptoms. To clarify genotype-phenotype correlation of MLD we examined three Japanese adult patients with MLD.All of them were compound heterozygote for G99D and T409I.Since the G99D mutation has been identified in all of type of MLD the T409I mutation seems to be highly associated with adult form. The strategy for treatment of inborn errors of metabolism is to transduce gene and express enzyme protein. To seek the feasibility of gene therapy using neurotrophic factors we transfected GDNF gene to adult facial motor using adenoviral vector. The gene transfer prevented the death of motor neurons, suggesting that neurotrophic factors may be useful to treat the brain damage in inborn errors of metabolism
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