mitochondrial DNA diseases

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  • Mitochondrial DNA sequence associations with dementia and amyloid-β in elderly African Americans.
  • Tranah GJ, Yokoyama JS, Katzman SM, Nalls MA, Newman AB, Harris TB, Cesari M, Manini TM, Schork NJ, Cummings SR, Liu Y, Yaffe K; Health, Aging and Body Composition Study.SourceCalifornia Pacific Medical Center Research Institute-San Francisco, San Francisco, CA, USA. Electronic address:
  • Neurobiology of aging.Neurobiol Aging.2014 Feb;35(2):442.e1-8. doi: 10.1016/j.neurobiolaging.2013.05.023. Epub 2013 Oct 18.
  • Mitochondrial dysfunction occurs early in the course of several neurodegenerative diseases, and is potentially related to increased oxidative damage and amyloid-β (Aβ) formation in Alzheimer's disease. The goals of this study were to assess mtDNA sequence associations with dementia risk, 10-year c
  • PMID 24140124
  • Biology of human pathogenic trypanosomatids: epidemiology, lifecycle and ultrastructure.
  • Rodrigues JC, Godinho JL, de Souza W.SourceLaboratório de Ultraestrutura Celular Hertha Meyer, Instituto de Biofísica Carlos Chagas Filho, Centro de Ciências da Saúde, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil,
  • Sub-cellular biochemistry.Subcell Biochem.2014;74:1-42. doi: 10.1007/978-94-007-7305-9_1.
  • Leishmania and Trypanosoma belong to the Trypanosomatidae family and cause important human infections such as leishmaniasis, Chagas disease, and sleeping sickness. Leishmaniasis, caused by protozoa belonging to Leishmania, affects about 12 million people worldwide and can present different clinical
  • PMID 24264239


  • Mitochonic Acid 5 (MA-5), a Derivative of the Plant Hormone Indole-3-Acetic Acid, Improves Survival of Fibroblasts from Patients with Mitochondrial Diseases
  • Suzuki Takehiro,Yamaguchi Hiroaki,Kikusato Motoi,Matsuhashi Tetsuro,Matsuo Akihiro,Sato Takeya,Oba Yuki,Watanabe Shun,Minaki Daichi,Saigusa Daisuke,Shimbo Hiroko,Mori Nobuyoshi,Mishima Eikan,Shima Hisato,Akiyama Yasutoshi,Takeuchi Yoichi,Yuri Akinori,Kikuchi Koichi,Toyohara Takafumi,Suzuki Chitose,Kohzuki Masahiro,Anzai Jun-ichi,Mano Nariyasu,Kure Shigeo,Yanagisawa Teruyuki,Tomioka Yoshihisa,Toyomizu Masaaki,Ito Sadayoshi,Osaka Hitoshi,Hayashi Ken-ichiro,Abe Takaaki
  • The Tohoku Journal of Experimental Medicine 236(3), 225-232, 2015
  • Mitochondrial dysfunction increases cellular oxidative stress and depletes ATP in a variety of inherited mitochondrial diseases and also in many other metabolic and neurodegenerative diseases. …
  • NAID 130005083526
  • ミトコンドリアDNA 8729 G>A変異をみとめたneurogenic muscle weakness, ataxia, and retinitis pigmentosa(NARP)の1例
  • 宮脇 統子,古東 秀介,石原 広之,後藤 雄一,西野 一三,苅田 典生,戸田 達史
  • 臨床神経学 55(2), 91-95, 2015
  • … 症をみとめた.MRIで小脳脳幹の萎縮があり,血清・髄液中の乳酸・ピルビン酸が高値,針筋電図検査で慢性神経原性変化をみとめた.生検筋の組織検査ではragged-red fiberなどの所見はなく慢性神経原性変化のみで,neurogenic muscle weakness, ataxia, and retinitis pigmentosaと診断した.遺伝子検査でミトコンドリアDNA 8729 G>A変異をみとめ,呼吸鎖酵素複合体である複合体Vの活性低下を確認したため,本症例での病的変異と考えた. …
  • NAID 130004921307
  • Potential impact of human mitochondrial replacement on global policy regarding germline gene modification
  • Ishii Tetsuya
  • Reproductive BioMedicine Online 29(2), 150-155, 2014-08
  • … However, the UK Human Fertilisation and Embryology Authority, having conducted at the UK Government's request a scientific review and a wide public consultation, provided advice to the Government on the pros and cons of Parliament's lifting a ban on altering mitochondrial DNA content of human oocytes and embryos, so as to permit the prevention of maternal transmission of mitochondrial diseases. …
  • NAID 120005468144


Until recently, mitochondrial genetics and diseases that are due to defects in mitochondrial DNA (mtDNA) were often considered to be curiosities, outside mainstream genetics. These views were not helped by the different genetic ...
What is Mitochondrial Disease? Mitochondrial diseases result from failures of the mitochondria, specialized compartments present in every cell of the body except red blood cells. Mitochondria are responsible for creating more than 90 ...



関連記事disease」「D」「DNA」「mitochondrial」「mitochondrial DNA



  • n.
疾患illnessより厳密な概念。「ある臓器に明確な障害が確認され、それによって症状が出ているとはっきり説明できる場合」 (PSY.9)
特定の原因、病態生理、症状、経過、予後、病理組織所見が全てそろった場合 (PSY.9)
  • something that is very wrong with people's attitudes, way of life or with society.
ailailmentdisease entitydisorderillillnessmaladysicksickness
  • 注意

WordNet   license wordnet

「an impairment of health or a condition of abnormal functioning」

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「(体の)『病気』,疾患 / (精神・道徳などの)病気,病弊」

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「女性の話術芸人 =diseur」



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「the 4th letter of the Roman alphabet」

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deoxyribonucleic acid
リボ核酸 RNA

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「deoxyribonucleic acidディオキシリボ核酸」



  • adj.
  • ミトコンドリアの

mitochondrial DNA」

  [★] ミトコンドリアDNA mtDNA