Clinical Characteristics of Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes.
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TL;DR: Management for MELAS syndrome is amostly symptomatic multidisciplinary approach and clinical presentations, pathogenic mechanisms and options for management are reviewed.
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Abstract: Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome, a maternally inherited mitochondrial disorder, is characterized by its genetic, biochemical and clinical complexity. The most common mutation associated with MELAS syndrome is the mtDNA A3243G mutation in the MT-TL1 gene encoding the mitochondrial tRNA-leu(UUR), which results in impaired mitochondrial translation and protein synthesis involving the mitochondrial electron transport chain complex subunits, leading to impaired mitochondrial energy production. Angiopathy, either alone or in combination with nitric oxide (NO) deficiency, further contributes to multi-organ involvement in MELAS syndrome. Management for MELAS syndrome is amostly symptomatic multidisciplinary approach. In this article, we review the clinical presentations, pathogenic mechanisms and options for management of MELAS syndrome.
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Mitochondrial Impairment: A Common Motif in Neuropsychiatric Presentation? The Link to the Tryptophan–Kynurenine Metabolic System
TL;DR: The functions of mitochondria and the Trp-KYN system, the interaction of the Tr p–kynurenine system with mitochondria, and the current understanding of the involvement of mitochondrial functions and the tryptophan-kyN system in preclinical and clinical studies of major neurological and psychiatric diseases are discussed.
•Dissertation
MELAS : a nationwide prospective cohort study of 96 patients in Japan
秀一 八ツ賀
- 01 Jan 2012
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