2013 Fiscal Year Final Research Report
Autophagic neurodegeneration in molecular pathogenesis of chorea-accanthocytosis
| Project/Area Number |
23390291
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| Research Category |
Grant-in-Aid for Scientific Research (B)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Psychiatric science
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| Research Institution | Kagoshima University |
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Principal Investigator |
SANO Akira 鹿児島大学, 医歯(薬)学総合研究科, 教授 (30178800)
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| Co-Investigator(Kenkyū-buntansha) |
NAKAMURA Masayuki 鹿児島大学, 大学院・歯学総合研究科, 准教授 (90332832)
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| Project Period (FY) |
2011-04-01 – 2014-03-31
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| Keywords | 有棘赤血球舞踏病 / chorein / オートファジー |
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| Research Abstract |
Co-immunopreticipation assay using extracts from chorein-overexpressing cells showed that chorein, the protein responsible for chorea-acanthocytosis (ChAc), co-precipitated with alpha-tubulin and HDAC6, probably leading to facilitation of alpha-tubulin deacetylation. Cell viability assay revealed that cells stably expressing chorein, significantly preserved cell viability during nutrient deprivation. These results suggest that chorein interacts with the cytoskeletal proteins and may play an important role in autophagic process, including in the protection against starvation-induced cell damages. Disruption of this cell protection mechanism may involved in molecular pathogenesis of ChAc.
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[Journal Article] Novel pathogenic mutations and copy number variations in the VPS13A Gene in patients with chorea-acanthocytosis2011
Author(s)
Tomiyasu A, Nakamura M, Ichiba M, Ueno S, Saiki S, Morimoto M, Kobal J, Kageyama Y, Inui T, Wakabayashi K, Yamada T, Kanemori Y, Jung HH, Tanaka H, Orimo S, Afawi Z, Blatt I, Aasly J, Ujike H, Babovic-Vuksanovic D, Josephs KA, Tohge R, Rodrigues GR, Dupre N, Yamada H, Yokochi F, Kotschet K, Takei T, Rudzinska M, Szczudlik A, Penco S, Fujiwara M, Tojo K, Sano A
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Journal Title
Am. J. Med. Genet. B Neuropsychiatr. Genet
Volume: 156
Pages: 620-631
DOI
Peer Reviewed
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