نتایج جستجو برای: mitochondrial myopathy
تعداد نتایج: 143464 فیلتر نتایج به سال:
BACKGROUND Statin drugs (3-hydroxy-3-methylglutaryl coenzyme A reductase inhibitors) reduce the level of cholesterol by inhibiting the synthesis of mevalonate, an intermediary in the cholesterol biosynthetic pathway. Use of statin drugs has been associated with a variety of skeletal muscle-related complaints. Coenzyme Q10 (CoQ10), a component of the mitochondrial respiratory chain, is also synt...
We read with interest the article by Kirmse et al. about fibroblast growth-factor-21 (FGF21) serum levels in a cohort of patients with an inborn error of metabolism (IEM) [1]. FGF21 levels were increased in IEM patients but highly variable in the various subgroups [1]. We have the following comments and concerns. In the methods section it is mentioned that 42 patients with an IEM were investiga...
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...
15 Poulton J, Morten K, Brown G, Bindoff L. Are duplications of mitochondrial DNA characteristic of Kearns-Sayre syndrome? Human Molecular Genetics 1994; 3: 947-51. 16 Prezant TR, Agapian JV, Bohlman MC, et al. Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness. Nature Genet 1993; 4: 289-94. 17 Fischel-Ghodsian N, Prezant TR, Bu X, Oztas S. M...
Mitochondrial DNA depletion syndrome (MDS) is a severe recessively inherited disease of childhood. It manifests most often in infancy, is rapidly progressive and leads to early death. MDS is caused by an increasing number of nuclear genes leading to multisystemic or tissue-specific decrease in mitochondrial DNA (mtDNA) copy number. Thymidine kinase 2 (TK2) has been reported to cause a myopathic...
Childhood-onset mitochondrial encephalomyopathies are usually severe, relentlessly progressive conditions that have a fatal outcome. However, a puzzling infantile disorder, long known as 'benign cytochrome c oxidase deficiency myopathy' is an exception because it shows spontaneous recovery if infants survive the first months of life. Current investigations cannot distinguish those with a good p...
The development of clevudine as a treatment for hepatitis B was terminated recently because of case reports of myopathy. In each case, the onset of symptoms occurred between 8 and 13 months after the initiation of treatment. Electromyography and muscle biopsy confirmed the presence of myonecrosis. One report also found evidence of mitochondrial toxicity. The delayed onset and the finding of mit...
The mitochondrial cytopathies are genetically and phenotypically heterogeneous group of disorders caused by structural and functional abnormalities in mitochondria. To the best of our knowledge, there are very few studies published from India till date. Selected and confirmed fourteen cases of neurological mitochondrial cytopathies with different clinical syndromes admitted between 1997 and 200...
tory system, resulting in mitochondrial dysfunction. However, some animal experiments and human studies have shown that the administration of statins reduces coenzyme Q10 levels in the serum but not in the muscle tissue. Moreover, recent trials in which the effectiveness of coenzyme Q10 administration in patients with statin-induced myopathy was examined have shown contradictory results ; hence...
In patients with mitochondrial disease a continuously increasing number of mitochondrial DNA (mtDNA) mutations and polymorphisms have been identified. Most pathogenic mtDNA mutations are heteroplasmic, resulting in heteroduplexes after PCR amplification of mtDNA. To detect these heteroduplexes, we used the technique of denaturing high performance liquid chromatography (DHPLC). The complete mito...
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