Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is characterized by a mitochondrial DNA mutation that leads to defective taurine modification of the leucine tRNA anticodon, with consequent impaired translation of the UUG codon. This defect reduces synthesis of respiratory chain complexes, which causes energy failure. Taurine supplementation improved mitochondrial function in MELAS model cells. A physician-initiated clinical trial reported that high-dose taurine supplementation therapy suppressed stroke-like episodes and improved taurine modification rates in leukocytes.
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http://dx.doi.org/10.11477/mf.1416202748 | DOI Listing |
Curr Opin Pediatr
February 2025
Section of Neurology, Ann and Robert H. Lurie Children's Hospital of Chicago.
Purpose Of Review: Primary mitochondrial disease (PMD) is diverse both genetically and phenotypically. Neurologic manifestations are present at a high rate and often pose complications for providers. The review will discuss common manifestations and how advances in genetic testing have broadened understanding of PMDs.
View Article and Find Full Text PDFFront Neurol
December 2024
Department of Neurology, Tianjin Huanhu Hospital, Nankai University, Tianjin, China.
Background: MELAS (Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes) is a common subtype of mitochondrial encephalomyopathy. However, few studies have explored the relationship between biochemical markers and prognosis. This study aimed to explore the relationship between clinical and biochemical markers and prognosis of patients with MELAS.
View Article and Find Full Text PDFNeurol India
November 2024
Department of Neurology, Neurology and Neurophysiology Center, Vienna, Austria.
Autophagy
December 2024
Department of Cell and Developmental Biology and Consortium for Mitochondrial Research, UCL, London, UK.
Mitochondrial DNA (mtDNA) encodes genes essential for oxidative phosphorylation. The m.3243A>G mutation causes severe disease, including myopathy, lactic acidosis and stroke-like episodes (MELAS) and is the most common pathogenic mtDNA mutation in humans.
View Article and Find Full Text PDFJ Neurol
December 2024
Clinical Neurosciences, Department of Clinical Medicine, University of Turku, Turku, Finland.
Background: Stroke-like episode (SLE) is a subacute evolving brain syndrome in patients with primary mitochondrial diseases. Despite previous research, the understanding of the clinical spectrum, treatment, and outcomes of mitochondrial SLEs is far from complete. In this single centre study, we report the clinical symptoms and radiological findings as well as the medical treatment and outcomes of SLEs in patients with mitochondrial disease.
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