Autophagic neurodegeneration in molecular pathogenesis of chorea-accanthocytosis

2013 Fiscal Year Final Research Report

• Project/Area Number: 23390291
• Research Category: Grant-in-Aid for Scientific Research (B)
• Allocation Type: Single-year Grants
• Section: 一般
• Research Field: Psychiatric science
• Research Institution: Kagoshima University
• Principal Investigator: SANO Akira 鹿児島大学, 医歯(薬)学総合研究科, 教授 (30178800)
• 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)
• Project Period (FY): 2011-04-01 – 2014-03-31
• Keywords: 有棘赤血球舞踏病 / chorein / オートファジー

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.

Research Products

• [Journal Article] Chorein, the proTein responsible for chorea-acanthocytosis, interacts with β-adducin and β-actin (2013)
  • Author(s): Shiokawa N, Nakamura M, SameShima M, Deguchi A, Hayashi T, Sasaki N, Sano A
  • Journal Title: Biochem Biophys res Commun Volume: 441 Pages: 96-101
  • DOI: 10.1016/j.bbrc.2013.10.011
  • Peer Reviewed
• [Journal Article] Heteroplasmic m.1624C>T mutation of the mitochondrial tRNAVal gene in a proband and his mother with repeated consciousness disturbances (2012)
  • Author(s): Sangatsuda Y, Nakamura M, Tomiyasu A, Deguchi A Toyota Y, Goto Y, Nishino I, Ueno S, Sano A
  • Journal Title: Mitochondrion Volume: 12 Pages: 617-622
  • DOI: 10.1016/j.mito.2012.10.002
  • Peer Reviewed
• [Journal Article] Subcellular localization and putative role of VPS13A/chorein in dopaminerrgic neuronal cells, Biochem (2012)
  • Author(s): Hayashi T, Kishida M, Nishizawa Y, Lijima M, Koriyama C, Nakamura M, Sano A, Kishida S
  • Journal Title: Biophys. Res. Commun Volume: 419 Pages: 511-516
  • DOI: 10.1016/j.bbrc.2012.02.047
  • Peer Reviewed
• [Journal Article] Novel pathogenic mutations and copy number variations in the VPS13A Gene in patients with chorea-acanthocytosis (2011)
  • 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
  • Journal Title: Am. J. Med. Genet. B Neuropsychiatr. Genet Volume: 156 Pages: 620-631
  • DOI: 10.1002/ajmg.b.31206
  • Peer Reviewed
• [Journal Article] Comprehensive analysis of the genes responsible for neuroacanthocytosis in mood disorder and schizophrenia (2011)
  • Author(s): Shimo H, Nakamura M, Tomiyasu A, Ichiba M, Ueno SI, Sano A
  • Journal Title: Neurosci. Res Volume: 69 Pages: 196-202
  • DOI: 10.1016/j.neures.2010.12.001
  • Peer Reviewed
• [Presentation] Chorein interacts with cytoskeletal proteins on nutrient starvation HEK293 cells (2013)
  • Author(s): Sasaki N, Nakamura M, Shiokawa N, Deguchi A, Sano A
  • Organizer: The 56th Meeting of the japanese Society for Neurochemistry
  • Place of Presentation: Kyoto Japan
  • Year and Date: 20130620-23
• [Presentation] Identification of Binding partners of horein (2013)
  • Author(s): Shiokawa N, Nakamura M, Deguchi A, Sasaki N, Sano A
  • Organizer: The 56th Meeting of the japanese Society for Neurochemistry
  • Place of Presentation: Kyoto Japan
  • Year and Date: 20130620-23
• [Presentation] Chorein interacts with cytoskeletal proteins in HEK293 cells treated with achemical inhibitor of oxidative phosphorylation (2013)
  • Author(s): Deguchi A, Nakamura M, Shiokawa N, Sasaki N, Sano A
  • Organizer: The 56th Meeting of the japanese Society for Neurochemistry
  • Place of Presentation: Kyoto Japan
  • Year and Date: 20130620-23
• [Presentation] Chrein interacts with cytoskeltalprotein interacts with cytoskeltal proteins in HEK293 cells (2012)
  • Author(s): Deguchi A, Nakamura M, Shiokawa N, Sasaki N, Sano A
  • Organizer: 11th biennial meeting of the Asian Pacific Society for Neurochemistry/55th Meeting of the Japanese Society for Neurochemistry
  • Place of Presentation: Kobe Japan
  • Year and Date: 20121001-02
• [Presentation] Proteomics approach to identify chorein-interacting proteins (2012)
  • Author(s): Shiokawa N, Nakamura M, Sameshima M, Deguchi A, Sano A
  • Organizer: 11th biennial meeting of the Asian Pacific Society for Neurochemistry/55th Meeting of the Japanese Society for Neurochemistry
  • Place of Presentation: Kobe Japan
  • Year and Date: 20121001-02
• [Presentation] Chorein is involved in exocytosis of dene core vesicles in differentiated PC12 cells (2012)
  • Author(s): Hayashi T, Kishida M, Nishizawa Y, Lijima M, Koriyama C, Nakamura M, Sano A, Kishida S
  • Organizer: 11th biennial meeting of the Asian Pacific Society for Neurochemistry/55th Meeting of the Japanese Society for Neurochemistry
  • Place of Presentation: Kobe Japan
  • Year and Date: 20121001-02
• [Presentation] 舞踏病原因遣伝子VPS13A変異による精神障害発症機構 (2011)
  • Author(s): 佐野 輝
  • Organizer: 第54回日本神経化学会年会 シンポジウム「精神障害の新規分子について-最近の知見から-」
  • Place of Presentation: 石川
  • Year and Date: 20110900
• [Book] 脳とこころのプライマリケア2巻 知能と衰え VII章 認知症各論(Huntington 病, 歯状核赤核淡蒼球ルイ体萎縮症, 有棘赤血球踏病) (2013)
  • Author(s): 中村雅之, 佐野 輝
  • Total Pages: 456-462
  • Publisher: シナジー
• [Book] 症候群ハンドブック(5. 有棘赤血球を伴う舞踏病) (2011)
  • Author(s): 中村雅之, 佐野 輝
  • Total Pages: 117-121
  • Publisher: 中山書店
• [Remarks]
  • URL: http://www.kufm.kagoshima-u.ac.jp/~np/