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MELAS: Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-Like Episodes Hidetomo Murakami 1 , Kenjiro Ono 1 1Department of Neurology, Showa University School of Medicine Keyword: ミトコンドリア病 , MELAS , 脳卒中様発作 , tRNA修飾異常症 , 神経細胞-星状細胞脱共役 , mitochondrial disease , MELAS , stroke-like episodes , diseases associated with tRNA modifications , neuron-astrocyte uncoupling pp.111-117
Published Date 2017/2/1
DOI https://doi.org/10.11477/mf.1416200650
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Abstract

Mitochondrial disease is caused by a deficiency in the energy supply to cells due to mitochondrial dysfunction. Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) is a mitochondrial disease that presents with stroke-like episodes such as acute onset of neurological deficits and characteristic imaging findings. Stroke-like episodes in MELAS have the following features: 1) neurological deficits due to localization of lesions in the brain, 2) episodes often accompany epilepsy, 3) lesions do not follow the vascular supply area, 4) lesions are more often seen in the posterior brain than in the anterior brain, 5) lesions spread to an adjacent area in the brain, and 6) neurological symptoms often disappear together with imaging findings, but later relapse. About 80% of patients with MELAS have an A-to-G transition mutation at the nucleotide pair 3243 in the dihydrouridine loop of mitochondrial tRNALeu(UUR), which causes the absence of posttranscriptional taurine modification at the wobble nucleotide of mitochondrial tRNALeu(UUR) and disrupts protein synthesis. However, the precise pathophysiology of stroke-like episodes is under investigation, with possible hypotheses for these episodes including mitochondrial angiopathy, mitochondrial cytopathy, and neuron-astrocyte uncoupling. With regard to treatment, L-arginine and taurine have recently been suggested for relief of clinical symptoms.


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電子版ISSN 1344-8129 印刷版ISSN 1881-6096 医学書院

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