Intergenerational transmission of pathogenic heteroplasmic mitochondrial DNA
نویسندگان
چکیده
منابع مشابه
Rapamycin drives selection against a pathogenic heteroplasmic mitochondrial DNA mutation.
Mitochondrial DNA (mtDNA) mutations cause a variety of mitochondrial disorders for which effective treatments are lacking. Emerging data indicate that selective mitochondrial degradation through autophagy (mitophagy) plays a critical role in mitochondrial quality control. Inhibition of mammalian target of rapamycin (mTOR) kinase activity can activate mitophagy. To test the hypothesis that enhan...
متن کاملDetection of Heteroplasmic Mitochondrial DNA in Single Mitochondria
BACKGROUND Mitochondrial DNA (mtDNA) genome mutations can lead to energy and respiratory-related disorders like myoclonic epilepsy with ragged red fiber disease (MERRF), mitochondrial myopathy, encephalopathy, lactic acidosis and stroke (MELAS) syndrome, and Leber's hereditary optic neuropathy (LHON). It is not well understood what effect the distribution of mutated mtDNA throughout the mitocho...
متن کاملSelective removal of deletion-bearing mitochondrial DNA in heteroplasmic Drosophila
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...
متن کاملRecent Advances in Detecting Mitochondrial DNA Heteroplasmic Variations.
The co-existence of wild-type and mutated mitochondrial DNA (mtDNA) molecules termed heteroplasmy becomes a research hot point of mitochondria. In this review, we listed several methods of mtDNA heteroplasmy research, including the enrichment of mtDNA and the way of calling heteroplasmic variations. At the present, while calling the novel ultra-low level heteroplasmy, high-throughput sequencing...
متن کاملHeteroplasmic mitochondrial DNA mutations in normal and tumour cells
The presence of hundreds of copies of mitochondrial DNA (mtDNA) in each human cell poses a challenge for the complete characterization of mtDNA genomes by conventional sequencing technologies. Here we describe digital sequencing of mtDNA genomes with the use of massively parallel sequencing-bysynthesis approaches. Although the mtDNA of human cells is considered to be homogeneous, we found wides...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Genetics in Medicine
سال: 2002
ISSN: 1098-3600,1530-0366
DOI: 10.1097/00125817-200203000-00005