نتایج جستجو برای: mitochondrial syndromes
تعداد نتایج: 212315 فیلتر نتایج به سال:
Somatic mitochondrial DNA (mtDNA) mutations contribute to the pathogenesis of age-related disorders, including myelodysplastic syndromes (MDS). The accumulation of mitochondria harboring mtDNA mutations in patients with these disorders suggests a failure of normal mitochondrial quality-control systems. The mtDNA-mutator mice acquire somatic mtDNA mutations via a targeted defect in the proofread...
BACKGROUND Mitochondrial disorders are clinical syndromes associated with mutations in the mitochondrial or nuclear genome that result in impaired oxidative phosphorylation and deficient energy production. Metabolic abnormalities in brain areas associated with cognitive functions could give rise to neuropsychiatric symptomatology. The aim of this study was to use single-voxel proton magnetic re...
arsenic exposure mainly through food and water has been shown to be associated with increased incidence of numerous cancers and non-cancer harmful health. it is also used in cancer chemotherapy and treatment of several cancer types due to its apoptogenic effects in the various cancer and normal cell lines. we have already reported that liver is the storage site and important target organ in as ...
sepsis is a systemic inflammatory response to infection. sepsis, which can lead to severe sepsis, septic shock, and multiple organ dysfunction syndrome, is an important cause of mortality. pathogenesis is extremely complex. in recent years, cell hypoxia caused by mitochondrial dysfunction has become a hot research field. sepsis damages the structure and function of mitochondria,conversely, mito...
Abstract Introduction: Maternally inherited diabetes and deafness (MIDD) is a multisystem disorder characterized by insulinopenia sensorineural hearing loss. This rare form of monogenic most commonly associated with the A3243G mutation mitochondrial DNA (mtDNA). The same seen in 80 percent patients MELAS (Mitochondrial encephalomyopathy lactic acidosis stroke-like episodes). MIDD have overlappi...
pioglitazone (pg) is one of thiazolidinediones used for the treatment of type ii diabetes mellitus. some reports of its hepatotoxicity exist, but the mechanism of its hepatotoxicity is not well known. in the present study, the protective effect of some atp suppliers are investigated against mitochondrial toxicity of pg in isolated rat mitochondria. mitochondrial viability was investigated by mt...
muscle tissue, skeletal muscle as well as cardiac muscle, is commonly affected in mitochondrial disorders. one explanation for this observation is that muscle tissue has a high-energy demand and therefore is more sensitive to a deficiency of mitochondrial energy production than some other tissues. in mitochondrial disorders, skeletal muscle tissue may be affected primarily by defective respirat...
BACKGROUND Myelodysplastic syndromes are a diverse and common group of chronic hematologic cancers. The identification of new genetic lesions could facilitate new diagnostic and therapeutic strategies. METHODS We used massively parallel sequencing technology to identify somatically acquired point mutations across all protein-coding exons in the genome in 9 patients with low-grade myelodysplas...
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