| Project/Area Number |
25860842
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| Research Category |
Grant-in-Aid for Young Scientists (B)
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| Allocation Type | Multi-year Fund |
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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) |
2013-04-01 – 2016-03-31
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| Project Status |
Completed (Fiscal Year 2015)
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| Budget Amount *help |
¥4,160,000 (Direct Cost: ¥3,200,000、Indirect Cost: ¥960,000)
Fiscal Year 2014: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
Fiscal Year 2013: ¥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 / MLPA法 |
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| Outline of Final Research Achievements |
To determine the mechanisms of pathogenesis for Charcot-Marie-Tooth disease (CMT), we examined the genes that had already been known to be responsible for the development of CMT. In addition, we studied two families affected with autosomal-recessive (AR)-axonal CMT by a parametric linkage analysis using genome-wide SNP microarray and whole-genome analysis (WGA) using a next-generation sequencing. We detected the autosomal-dominant gene mutations as follows: 14 cases of MFN2 mutation, 1 of GARS, 5 of MPZ, 5 of GDAP1, 6 of GJB1, and 1 of PRPS1. Compound heterozygous OPA1 mutations were detected in the siblings who showed variable clinical symptoms. We also found a novel AR-causative gene, COX6A1 in two families. The homozygous COX6A1 mutation is a cause of autosomal-recessive axonal CMT or intermediate CMT. Since the causative genes have not yet been detected in most Japanese patients with CMT, WGA by using a next-generation sequencer would be useful for molecular diagnosis of CMT.
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