نتایج جستجو برای: heteroplasmy
تعداد نتایج: 700 فیلتر نتایج به سال:
Mitochondrial DNA (mtDNA) is widely used to clarify phylogenetic relationships among and within species, and to determine population structure. Due to the linked nature of mtDNA genes it is expected that different genes will show similar results. Phylogenetic incongruence using mtDNA genes may result from processes such as heteroplasmy, nuclear integration of mitochondrial genes, polymerase err...
Mitochondrial diabetes is characterized by diabetes and hearing loss in maternal transmission with a heteroplasmic A3243G mutation in the mitochondrial gene. In patients with the mutation, it has been reported that hepatic involvement is rarely observed. We demonstrated a case of hypertrophic cardiomyopathy and hepatic failure with mitochondrial diabetes. To clarify the pathogenesis we analyzed...
Mitochondrial disorders are a group of complex and heterogeneous diseases that may be caused by molecular defects in mitochondrial genomes. Pathogenic mitochondrial DNA (mtDNA) mutations are usually present in the heteroplasmic form. The degree of mtDNA mutation heteroplasmy varies among different tissues. Thus, it is important to detect and quantify the degree of mutation heteroplasmy of mtDNA...
Peripheral populations are those situated at the distribution margins of a species and are often subjected to more extreme abiotic and biotic conditions than those at the core. Here, we hypothesized that shorter repeat length and fewer heteroplasmic mitochondrial DNA (mtDNA) copies, which are associated with more efficient mitochondrial function, may be related to improved survival under extrem...
We investigated cellular glucose uptake of fibroblast cultures derived from seven patients with mitochondrial DNA (mtDNA) A3243G mutation and from six healthy controls with no mtDNA mutations. Heteroplasmy of fibroblast cultures were shifted by culturing for 5 days in galactose-containing medium. The proportion of mutant mtDNA decreased by 7.7% to 10% in three patient fibroblast cultures, where...
Mitochondrial DNA (mtDNA) often exists in a state of heteroplasmy, in which mutant mtDNA co-exists in cells with wild-type mtDNA. High frequencies of pathogenic mtDNA result in maternally inherited diseases; maternally and somatically acquired mutations also accumulate over time and contribute to diseases of ageing. Reducing heteroplasmy is therefore a therapeutic goal and in vivo models in pos...
To the Editor We read with interest the article by Mukai et al. regarding a 41-year-old male with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome due to the mtDNA mutation m.10158T>C in the MT-ND3 gene with a heteroplasmy rate of 69% in the muscle (1). Our comments and concerns regarding this manuscript are described below. The patient underwen...
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