2011 Fiscal Year Final Research Report
Clinical and genetic analysis on neurodegenerative disorders
| Project/Area Number |
21591066
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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 | Hokkaido University |
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Principal Investigator |
YABE Ichiro 北海道大学, 大学院・医学研究科, 准教授 (60372273)
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| Co-Investigator(Renkei-kenkyūsha) |
SASAKI Hidenao 北海道大学, 大学院・医学研究科, 教授 (80281806)
AKIMOTO Sachiko 北海道大学, 大学院・医学研究科, 助教 (60374328)
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| Project Period (FY) |
2009 – 2011
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| Keywords | 脊髄小脳変性症 / PRKCG / Machado-Joseph disease / ^<31>P-MRS / POLG / パーキンソン病 / ミトコンドリア |
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| Research Abstract |
The aim of this study was to determine if muscle energy metabolism, as measured by 31P-magnetic resonance spectroscopy (MRS), is a metabolic marker for the efficacy of treatment of Machado-Joseph disease (MJD). The data showed that there was a significant difference between the groups in terms of the PCr/(Pi + PCr) ratio at rest (p=0.03) and the maximum rate of mitochondrial ATP production (Vmax) (p < 0.01). In addition, Vmax was inversely correlated with the scale for the assessment and rating of ataxia (SARA) score (r=-0.34, p=0.04). The MJD group also showed a reduction in Vmax over the course of two years (p<0.05). These data suggest that non-invasive measurement of muscle energy metabolism may represent a surrogate marker for MJD.
In addition, in order to define the molecular basis of progressive external ophthalmoplegia and parkinsonism, we screened for mutations in PEO1, ANT1, POLG genes and the whole mitochondrial genome in two families. In results, we identified a compound heterozygous POLG substitutions in one of the families. In the other family, no mutations were detected in any of the three genes and the whole mitochondrial genome in the blood sample, although mitochondrial DNA deletions were observed in the muscle biopsy sample. Progressive external ophthalmoplegia and parkinsonism are genetically heterogenous disorders, and part of this syndrome may be caused by mutations in other, unknown genes.
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Research Products
(5 results)
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[Journal Article] Writing errors in ALS related to loss of neuronal integrity in the anterior cingulate gyrus2012
Author(s)
Yabe, I., Tsuji-Akimoto, S., Shiga, T., Hamada, S., Hirata, K., Otsuki, M., Kuge, Y., Tamaki, N., Sasaki, H.
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Journal Title
J Neurol Sci
Volume: 315
Pages: 55-59
Peer Reviewed
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