| Project/Area Number |
22790964
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| Research Category |
Grant-in-Aid for Young Scientists (B)
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| Allocation Type | Single-year Grants |
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| Research Field |
Pediatrics
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| Research Institution | Yamagata University |
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Principal Investigator |
ABE Akiko 山形大学, 医学部, 非常勤講師 (10536949)
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| Project Period (FY) |
2010 – 2011
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| Project Status |
Completed (Fiscal Year 2011)
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| Budget Amount *help |
¥3,900,000 (Direct Cost: ¥3,000,000、Indirect Cost: ¥900,000)
Fiscal Year 2011: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
Fiscal Year 2010: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
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| Keywords | Charcot-Marie-Tooth病 / 遺伝性ニューロパチー / DHPLC法 / MLPA法 / Charcot-Maric-Tooth病 |
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| Research Abstract |
In order to reveal the pathophysiological mechanisms of developing Charcot-Marie-Tooth disease (CMT), we examined the genes that had already been recognized as disease-causing genes of CMT. To evaluate the involvement of deletion or duplication of the responsible genes, we established the modified analyzing method of MLPA for the responsible genes. We have reported that a compound heterozygous minor and large deletions of PMP 22 gene was detected in a patient with severe CMT by MLPA. We identified the disease-causing gene mutations in many Japanese CMT patients and revealed the genotype-phenotype relationship. CMT1A, which is most frequently found in Caucasian CMT patients, was less frequent in Japanese population. Furthermore, we could not identify the disease-causing mutation in most Japanese CMT patients. To identify the genetic background of Japanese CMT patients, we should establish sensitive screening methods and search for novel responsible genes.
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