نتایج جستجو برای: mitochondrial disease
تعداد نتایج: 1603053 فیلتر نتایج به سال:
leigh syndrome is a severe progressive neurodegenerative disorder with different clinical presentationsthat usually becomes apparent in the first year of life and rarely in late childhood and elderly years. it is causedby failure of mitochondrial respiratory chain and often results in regression of both mental and motor skills and might even lead to death. in some of the inherited neurodegenera...
Tubulointerstitial kidney disease is an important cause of progressive renal failure whose aetiology is incompletely understood. We analysed a large pedigree with maternally inherited tubulointerstitial kidney disease and identified a homoplasmic substitution in the control region of the mitochondrial genome (m.547A>T). While mutations in mtDNA coding sequence are a well recognised cause of dis...
Alzheimer's desease is the most common age-related neurodegenerative disorder, and cognitive problems such as defects in learning and memory are of its symptoms. Among the factors involved in the pathogenesis of the disease are biochemical disorders in protein production, oxidative stress, decreased acetylcholine secretion and inflammation of the brain tissue. Extra-neuronal accumulation ...
In animals, mitochondria are mainly organised into an interconnected tubular network extending across the cell along a cytoskeletal scaffold. Mitochondrial fission and fusion, as well distribution tracks, counterbalancing mechanisms acting in concert to maintain mitochondrial tuned cellular function. Balanced dynamics permits quality control of including biogenesis turnover, DNA, is linked meta...
abstract objective ethylmalonic encephalopathy (ee) is a severe mitochondrial disease of early infancy clinically characterized by a combination of developmental delay, progressive pyramidal signs and vascular lesions including petechial purpura, orthostatic acrocyanosis and chronic hemorrhagic diarrhoea. biochemical hallmarks of the disease are persistently high levels of lactate, and c4–c5-ac...
PURPOSE Mitochondrial disease is the most common neuromuscular disease and has a profound impact upon daily life, disease and longevity. Exercise therapy has been shown to improve mitochondrial function in patients with mitochondrial disease. However, no information exists about the level of habitual physical activity of people with mitochondrial disease and its relationship with clinical pheno...
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