Advances in primary mitochondrial myopathies
نویسندگان
چکیده
منابع مشابه
Pathogenesis and treatment of mitochondrial myopathies: recent advances
In this brief review, I have highlighted recent advances in several areas of mitochondrial medicine, including mtDNA-related diseases, mendelian mitochondrial encephalomyopathies, and therapy. The pathogenic mechanisms of mtDNA mutations, especially those affecting mitochondrial protein synthesis, are still largely unknown. The pathogenicity of homoplasmic mtDNA mutations has become evident but...
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PURPOSE OF REVIEW Treatment options for mitochondrial myopathies remain limited despite rapid advances in the understanding of the molecular basis of these conditions. Existing therapies continue to be evaluated and novel treatment strategies are starting to appear on the horizon. RECENT FINDINGS Exercise training continues to show promise as a method of improving exercise tolerance and enhan...
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Pearson syndrome. Clinical spectrum of mitochondrial disorders is broad, so consensus diagnostic criteria for mitochondrial disorders have been proposed for children and adults. Sequence map of human mitochondrial genome with its normal and patho genic variants is publicly available. In this review, we will discuss genetic features of mitochondrial myopathies as well as their key findings. Rep...
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An uncommon but increasingly diagnosed clinical situation in humans is mitochondrial myopathy, a condition in which muscle function is impaired by defective mitochondrial metabolism in the generation of energy for muscle contraction. It is also now clear that abnormalities of mitochondrial function are not limited to muscle, but may also underlie multisystem disease, in which other tissues are ...
متن کاملApoptosis in mitochondrial myopathies is linked to mitochondrial proliferation.
Increased susceptibility to apoptosis has been shown in many models of mitochondrial defects but its relevance to human diseases is still discussed. We addressed the presence of apoptosis in muscle from patients with mitochondrial DNA (mtDNA) disorders. Taking advantage of the mosaic pattern of muscle morphological anomalies associated with heteroplasmic mtDNA alterations, we have used an in si...
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ژورنال
عنوان ژورنال: Current Opinion in Neurology
سال: 2019
ISSN: 1350-7540,1473-6551
DOI: 10.1097/wco.0000000000000743