DNA‐editing enzymes as potential treatments for heteroplasmic mtDNA diseases

作者: U. Zekonyte , S. R. Bacman , C. T. Moraes

DOI: 10.1111/JOIM.13055

关键词:

摘要: Mutations in the mitochondrial genome are cause of many debilitating neuromuscular disorders. Currently, there is no cure or treatment for these diseases, and symptom management only relief doctors can provide. Although supplements vitamins commonly used treatment, they provide little benefit to patient palliative. This why gene therapy a promising research topic potentially treat and, theory, even diseases caused by mutations DNA (mtDNA). Mammalian cells contain approximately thousand copies mtDNA, which lead phenomenon called heteroplasmy, where both wild-type mutant mtDNA molecules co-exist within cell. Disease manifests once per cent reaches high threshold (usually >80%), causes dysfunction reduced ATP production. useful feature take advantage applications, as not every copy needs be eliminated, but enough shift heteroplasmic ratio below disease threshold. Several DNA-editing enzymes have been heteroplasmy cell culture mice. review provides an overview discusses roadblocks applying humans.

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