Mitochondrial DNA maintenance defects

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Mitochondrial DNA maintenance and bioenergetics.

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Mitochondrial DNA (mtDNA) is maternally inherited. After birth, secondary mtDNA defects can arise. MtDNA depletion is a reduction in the amount of mtDNA in particular tissues. Multiple deletions of mtDNA accumulate as somatic mutations in mainly postmitotic tissues. These disorders of mtDNA maintenance frequently show Mendelian inheritance. Positional cloning has identified several genes involv...

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Mitochondrial DNA defects: a widening clinical spectrum of disorders.

1. Mitochondrial DNA has a number of interesting properties including maternal transmission, the ability to replicate in post-mitotic cells, a high mutation rate and an extremely compact molecular architecture with no introns and no large non-coding sequences. 2. Point mutations, deletions and duplications of mitochondrial DNA may occur. Mitochondrial DNA defects may co-exist with wild-type seq...

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DNA molecules in mitochondria, just like those in the nucleus of eukaryotic cells, are constantly damaged by noxious agents. Eukaryotic cells have developed efficient mechanisms to deal with this assault. The process of DNA repair in mitochondria, initially believed nonexistent, has now evolved into a mature area of research. In recent years, it has become increasingly appreciated that mitochon...

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ژورنال

عنوان ژورنال: Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

سال: 2017

ISSN: 0925-4439

DOI: 10.1016/j.bbadis.2017.02.017