MELAS syndrome

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  • Phenotypic Analysis of Epilepsy in the Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike Episodes-Associated Mitochondrial DNA A3243G Mutation.
  • Demarest ST1, Whitehead MT1, Turnacioglu S1, Pearl PL2, Gropman AL3.
  • Journal of child neurology.J Child Neurol.2014 Sep;29(9):1249-56. doi: 10.1177/0883073814538511. Epub 2014 Jul 17.
  • The A to G mitochondrial DNA point mutation at position 3243 (A3243G) is the most common cause of mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS), a systemic multiorgan disease. Epilepsy is a common finding but there is wide phenotypic variation that has not been th
  • PMID 25038129
  • Mutation-free baby born from a mitochondrial encephalopathy, lactic acidosis and stroke-like syndrome carrier after blastocyst trophectoderm preimplantation genetic diagnosis.
  • Heindryckx B1, Neupane J2, Vandewoestyne M3, Christodoulou C4, Jackers Y5, Gerris J6, Van den Abbeel E7, Van Coster R8, Deforce D9, De Sutter P10.
  • Mitochondrion.Mitochondrion.2014 Aug 23. pii: S1567-7249(14)00120-2. doi: 10.1016/j.mito.2014.08.005. [Epub ahead of print]
  • To investigate the applicability of preimplantation genetic diagnosis (PGD), we used trophectoderm (TE) biopsy to determine the mutation load in a 35-year-old female with mitochondrial encephalopathy, lactic acidosis and stroke-like syndrome (MELAS). Transfer of a mutation-free blastocyst gave birth
  • PMID 25159128
  • The ROS-sensitive microRNA-9/9* controls the expression of mitochondrial-tRNA modifying enzymes and is involved in the molecular mechanism of MELAS syndrome.
  • Meseguer S1, Martínez-Zamora A2, García-Arumi E3, Andreu AL3, Armengod ME4.
  • Human molecular genetics.Hum Mol Genet.2014 Aug 22. pii: ddu427. [Epub ahead of print]
  • Mitochondrial dysfunction activates mitochondria-to-nucleus signaling pathways whose components are mostly unknown. Identification of these components is important to understand the molecular mechanisms underlying mitochondrial diseases and to discover putative therapeutic targets. MELAS syndrome is
  • PMID 25149473





リンク元MELAS症候群」「mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode syndrome



MELAS syndromemitochondrial myopathyencephalopathy、lactic acidosis and stroke-like episode syndrome

mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode syndrome」



MELAS syndrome



  • n.

WordNet   license wordnet

「a pattern of symptoms indicative of some disease」

WordNet   license wordnet

「a complex of concurrent things; "every word has a syndrome of meanings"」

PrepTutorEJDIC   license prepejdic

「(疾患の徴候となる一群の)症徴候,症候群 / (事件・社会的状態などのパターンを示す)徴候形態」


  [★] ミトコンドリア脳筋症・乳酸アシドーシス・脳卒中様発作症候群, mitochondrial myopathy, encephalopathy, lactic acidosis and strokelike episodes, mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes