نتایج جستجو برای: mitochondrial myopathies
تعداد نتایج: 134607 فیلتر نتایج به سال:
SOD1 is a cause of the fatal, paralytic disorder ALS. Although mechanisms underlying mutant SOD1 neurotoxicity remain uncertain, this protein associates with mitochondria. In this issue of Neuron, Israelson et al. show that mutant SOD1 binds and inhibits the mitochondrial channel VDAC1. This finding sheds light onto possible molecular links between mutant SOD1, mitochondrial dysfunction, and sp...
Desmin is the intermediate filament (IF) protein occurring exclusively in muscle and endothelial cells. There are other IF proteins in muscle such as nestin, peripherin, and vimentin, besides the ubiquitous lamins, but they are not unique to muscle. Desmin was purified in 1977, the desmin gene was characterized in 1989, and knock-out animals were generated in 1996. Several isoforms have been de...
Critical illness polyneuropathies (CIP) and myopathies (CIM) are common complications of critical illness. Several weakness syndromes are summarized under the term intensive care unit-acquired weakness (ICUAW). We propose a classification of different ICUAW forms (CIM, CIP, sepsis-induced, steroid-denervation myopathy) and pathophysiological mechanisms from clinical and animal model data. Trigg...
In 3 of 40 MELAS patients, a new common mutation, a T-to-C transition at nucleotide position 3271 in the mitochondrial tRNA(Leu(UUR] gene was recognized and was very near to the most common mutation site at 3243. With a simple detection method using polymerase chain reaction with a mismatch primer, none of 46 patients with other mitochondrial diseases and 50 controls had this mutation.
Muscle weakness and exercise intolerance are hallmark symptoms in mitochondrial disorders. Little is known about the mechanisms leading to impaired skeletal muscle function and ultimately muscle weakness in these patients. In a mouse model of lethal mitochondrial myopathy, the muscle-specific Tfam knock-out (KO) mouse, we previously demonstrated an excessive mitochondrial Ca(2+) uptake in isola...
Genes in the 16.6 kb human mitochondrial DNA (mtDNA) are concerned exclusively with bioenergy production. Mutations in mtDNA can, therefore, lead to bioenergy decline and so contribute to various age-related degenerative diseases and even to 'natural' ageing (1-3). Large deletions in mtDNA occur in tissues of patients with mitochondrial myopathies and also occur in normal ageing, particularly i...
Oxidative phosphorylation defects in human tissues are often challenging to quantify due to a mosaic pattern of deficiency. Biochemical assays are difficult to interpret due to the varying enzyme deficiency levels found in individual cells. Histochemical analysis allows semi-quantitative assessment of complex II and complex IV activities, but there is no validated histochemical assay to assess ...
OBJECTIVE Traumatic brain injury (TBI) is a multifactorial pathology with great interindividual variability in response to injury and outcome. Mitochondria contain their own DNA (mtDNA) with genomic variants that have different physiological and pathological characteristics, including susceptibility to neurodegeneration. Given the central role of mitochondria in the pathophysiology of neurologi...
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