نتایج جستجو برای: mitochondrial syndromes
تعداد نتایج: 212315 فیلتر نتایج به سال:
BACKGROUND Mitochondrial diseases are caused by mutations in mitochondrial or nuclear genes, or both and most patients do not present with easily recognizable disorders. The characteristic morphologic change in muscle biopsy, ragged-red fibers (RRFs) provides an important clue to the diagnosis. MATERIALS AND METHODS Demographic data, presenting symptoms, neurological features, and investigati...
CMYK 305 Mitochondrial neurological disorders remain esoteric but fascinating to the clinician. Aspects of their biology illuminate the complexities of their clinical manifestations. The hallmark multiple organ dysfunction is traceable to failure of mitochondria, the ubiquitous organelles of energy generation. High energy cell populations that are post-mitotic and nondividing at birth, are espe...
OBJECTIVE Mounting evidence links neurodegenerative disorders such as Parkinson disease and Alzheimer disease with mitochondrial dysfunction, and recent emphasis has focused on mitochondrial dynamics and quality control. Mitochondrial dynamics and mtDNA maintenance is another link recently emerged, implicating mutations in the mitochondrial fusion genes OPA1 and MFN2 in the pathogenesis of mult...
Considerable evidence suggests that mitochondrial dysfunction contributes to the toxicity of uranyl acetate (UA), a soluble salt of depleted uranium (DU). We examined the ability of the two antioxidants, beta-glucan and butylated hydroxyl toluene (BHT), to prevent UA-induced mitochondrial dysfunction using rat-isolated kidney mitochondria. Beta-glucan (150 nM) and BHT (20 nM) attenuated UA-indu...
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BACKGROUND Mitochondrial DNA is a valuable taxonomic marker due to its relatively fast rate of evolution. In Trypanosoma cruzi, the causative agent of Chagas disease, the mitochondrial genome has a unique structural organization consisting of 20-50 maxicircles (∼20 kb) and thousands of minicircles (0.5-10 kb). T. cruzi is an early diverging protist displaying remarkable genetic heterogeneity an...
Received 31 October 1995 and in final revised form 19 February 1996 Accepted 23 February 1996 Abstract Objective-To verify the phenotype to genotype correlations of mitochondrial DNA (mtDNA) related disorders in an atypical maternally inherited encephalomyopathy. Methods-Neuroradiological, morphological, biochemical, and molecular genetic analyses were performed on the affected members of a ped...
Complex I (NADH:ubiquinone oxidoreductase) is the largest multisubunit assembly of the oxidative phosphorylation system, and its malfunction is associated with a wide variety of clinical syndromes ranging from highly progressive, often early lethal, encephalopathies to neurodegenerative disorders in adult life. The changes in mitochondrial structure and function that are at the basis of the cli...
Calpain, a Ca2+-dependent cysteine protease, plays significant role in gene expression, signal transduction, and apoptosis. Mutations human calpain-5 cause autosomal dominant neovascular inflammatory vitreoretinopathy the inhibition of activity may constitute an effective therapeutic strategy for this condition. Although is ubiquitously expressed mammalian tissues was recently found to be prese...
purpose: to report a case of isolated corneal squamous cell intraepithelial neoplasia in a patient with unilateral dry eye symptoms. case report: a 48 year old man presented with history of thermal corneal injury in his left eye two years ago, with decreased visual acuity and dry eye symptoms a short time thereafter. he was treated for dry eye with no improvement in symptoms. upon presentation,...
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