2007 Fiscal Year Final Research Report Summary
Participation of new CAG repeat gene in Spinocerebellar ataxia.
| Project/Area Number |
18590943
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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 | Hiroshima University |
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Principal Investigator |
MARUYAMA Hirofumi Hiroshima University, Research Institute for Radiation Biology and Medicine, Associate Professor (90304443)
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| Co-Investigator(Kenkyū-buntansha) |
KAWAKAMI Hideshi Hiroshima University, Research Institute for Radiation Biology and Medicine, Professor (70253060)
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| Project Period (FY) |
2006 – 2007
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| Keywords | CAG repeat / expansion / Spinocerebellar ataxia |
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| Research Abstract |
We screened spinocerebellar ataxia type 14 (SCA14) and spinocerebellar ataxia type 16 (SCA16). It is reported that the causative gene of SCA14 is PRKCG gene (encoding γ subtype of protein kinase C) and SCA16 is Contaxin4 (CNTN4) gene. We screened exon4 of the PRKCG gene in 882 SCA patients with undefined etiologies. We found a novel C/T missense mutation with a Ser119-to Phe substitution (S119F) in one family. The main symptom was pure cerebellar ataxia with late onset. One patient showed intractable epilepsy, severe walking disturbance, and trunk ataxia with early onset. It is suggested that the frequency of SCA14 in the Japanese SCA population is very low. Next, we examined c.4256C>T mutation of CNTN4 gene in 323 SCA patients. We found no mutation, and it seemed that this mutation is rare in Japanese with inherited spinocerebellar ataxia. This c.4256C>T substitution may be specific to the first reported family, and not a causative gene in general In our inherited SCA samples, SCA6 is 25.3% and most frequent. Next MJD/SCA3 is 23.1%, DRPLA is 8.2%, SCA1 is 4.0%, and unknown causative gene is 34.8%.
We carried out haplotype analysis on SCA6 families from Europe, South America and the Far East. A core CACNA1A disease haplotype was found in affected individuals across the globe. This was also present in the unaffected father of the de novo case, suggesting that the shared chromosome predisposes to the CAG repeat expansion at the SCA6 locus.
We screened the candidate genes that have CAG expansions, and heterogeneity were existed. Its pattern is similar to normal control, and there was no gene that have expanded CAG repeats.
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[Journal Article] A polymorphism of LOC387715 gene is associated with age-related macular degeneration in the Japanese population2007
Author(s)
S., Tanimoto, H., Tamura, T., Ue, K., Yamane, H., Maruyama, H., Kawakami, Y., Kiuchi
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Journal Title
Neuroscience Letters 414
Pages: 71-74
Description
「研究成果報告書概要(欧文)」より
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[Journal Article] Identification and haplotype analysis of LRRK2 G2019S in Japanese patients with Parkinson disease2006
Author(s)
CP., Zabetian, H., Morino, H., Ujike, M., Yamamoto, M., Ode, H., Maruyama, Y., Izumi, R., Kaji, A., Griffith, BC., Leis, JW., Roberts, D., Yearout, A., Samii, H., Kawakami
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Journal Title
Neurology 67
Pages: 697-699
Description
「研究成果報告書概要(欧文)」より
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[Journal Article] Identification of a new family of spinocerebellar ataxia type 14 in the Japanese spinocerebellar ataxia population by the screening of PRKCG exon 42006
Author(s)
Hiramoto, K., Kawakami, H., Inoue, K., Seki, T., Maruyama, H., Morino, H., Matsumoto, M., Kurisu, K., Sakai, N
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Journal Title
Movement Disorders 21
Pages: 1355-1360
Description
「研究成果報告書概要(欧文)」より
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[Journal Article] Voltage-gated potassium channel antibodies associated limbic encephalitis in a patient with invasive thymoma2006
Author(s)
T., Ohshita, H., Kawakami, H., Maruyama, T., Kohriyama, K., Arimura, M., Matsumoto
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Journal Title
Journal of the Neurological Sciences 205
Pages: 167-169
Description
「研究成果報告書概要(欧文)」より
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[Journal Article] Pathogenic expansions of the SCA6 locus are associated with a common CACNA1A haplotype across the globe : founder effect or predisposing chromosome?
Author(s)
K., Craig, Y., Takiyama, B-W., Soong, LB., Jaardim, ML., Saraiva-Pereira, K., Lythgow, H., Morino, H., Maruyama, H., Kawakami, PF., Chinnery
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Journal Title
European Journal of the Human Genetics (in press)
Description
「研究成果報告書概要(欧文)」より
