Identification of mitochondrial DNA mutations in patients exhibiting neuropsychiatric symptoms

2008 Fiscal Year Final Research Report

• Project/Area Number: 19591365
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Single-year Grants
• Section: 一般
• Research Field: Psychiatric science
• Research Institution: Kagoshima University
• Principal Investigator: NAKAMURA Masayuki Kagoshima University, 医学部・歯学部附属病院, 講師 (90332832)
• Co-Investigator(Kenkyū-buntansha): SANO Akira 鹿児島大学, 大学院・医歯学総合研究科, 教授 (30178800)
• Project Period (FY): 2007 – 2008
• Keywords: 統合失調症 / 気分障害 / 認知症 / ミトコンドリア遺伝子

Research Abstract

幻覚や妄想もしくは気分の落ち込みや興味関心の喪失などの精神症状を呈し、手足の筋力低下やまぶたが下がってくるなどの筋症状を有する患者に遭遇した。このような筋症状はミトコンドリア異常を示唆するものであり、ミトコンドリア遺伝子解析を行った。その結果、これらの患者にはミトコンドリア遺伝子の一部が欠落する変異が存在することが解り、統合失調症やうつなどの精神疾患とミトコンドリア機能異常の関連が示唆された。

Research Products

• [Journal Article] A new phenotype of chorea-acanthocytosis with dilated cardiomyopathy and myopathy (2007)
  • Author(s): Kageyama, Y., Matsumoto, K., Ichikawa, K., Ueno, S., Ichiba, M., Nakamura, M., & Sano A
  • Journal Title: Mov. Disord (22) Pages: 1669-167
  • Peer Reviewed
• [Journal Article] Clinical and molecular genetical assessment of a chorea-acanthocytosis pedigree (2007)
  • Author(s): Ichiba, M., Nakamura, M., Kusumoto, A., Mizuno, E., Kurano, Y., Matsuda, M., Kato, M., Tomemori, Y., Muroya, S., Nakabepu, Y., Sano, A.
  • Journal Title: J Neurol. Sci. 263 Pages: 124-132
  • Peer Reviewed
• [Presentation] Three cases of mental disorders with muscle weakness, external ophthalmoplegia and mitochondrial DNA deletions (2008)
  • Author(s): Kato M., Nakamura M., Ichiba M., Tomiyasu A., Shimo H., Matsuda M., Sano A.
  • Organizer: XVIth World Congress on Psychiatric Genetics
  • Place of Presentation: Osaka Japan
  • Year and Date: 2008-10-13
• [Presentation] Bcl-2 family proteins are involved in neuronal apoptosis in the chorea-acanthocytosis model mouse (2008)
  • Author(s): Matsuda M., Nakamura M., Ichiba M., Kato M., Shimo H., Tomiyasu A., Kono N., Uchinokura Y., Mori S., Ishizuka T., Hayashi T., and Sano A.
  • Organizer: 第51回日本神経化学会大会
  • Place of Presentation: 富山
  • Year and Date: 2008-09-12
• [Presentation] Molecular understanding of ChAc using ChAc mouse (2008)
  • Author(s): Sano A
  • Organizer: 4th International Symposium on Neuroacanthocytosis
  • Place of Presentation: London and Oxford, UK
  • Year and Date: 2008-07-02
• [Presentation] Chorein (VPS13A) state and Proteome analysis in chorea-acnthocytosis red blood cells (2008)
  • Author(s): Nakamura M., Sano A
  • Organizer: 4th International Symposium on Neuroacanthocytosis
  • Place of Presentation: London and Oxford, UK
  • Year and Date: 2008-07-02
• [Presentation] うつ病を呈し慢性進行性外眼筋麻痺の筋症状や遺伝子異常を伴い、筋病理上multiple mini-coreを認めた-例 (2007)
  • Author(s): 加藤真依子, 中村雅之, 市場美緒, 揚村明日美, 松田三恵子, 畑幸宏, 伊地知 明, 今井莉香, 佐野 輝
  • Organizer: 第29回日本生物学的精神医学会
  • Place of Presentation: 札幌
  • Year and Date: 2007-07-13
• [Presentation] ミトコンドリア病の精神症状 (2007)
  • Author(s): 佐野 輝
  • Organizer: 第29回日本生物学的精神医学会
  • Place of Presentation: 札幌
  • Year and Date: 2007-07-12
• [Book] Neuroacanthocytosis Syndromes II A Mouse Model of Chorea-acanthocytosis (2008)
  • Author(s): Nakamura M., Katoh Y., Kurano Y., Ichiba M., Matsuda M., Katoh M., Ueno S., and Sano A.
  • Total Pages: 153-160
  • Publisher: Springer, Berlin, Germany
• [Book] Neuroacanthocytosis Syndromes II Psychiatric Morbidity in Neuroacanthocytosis (2008)
  • Author(s): Sano A.
  • Total Pages: 219-223
  • Publisher: Springer, Berlin, Germany
• [Book] chorea acanthocytosis ; 内科学 第九版 (2007)
  • Author(s): 佐野輝
  • Total Pages: 1794-1796
  • Publisher: 朝倉書店