Treatment
Although research is ongoing, treatment options are currently limited; vitamins are frequently prescribed, though the evidence for their effectiveness is limited. Membrane penetrating antioxidants have the most important role in improving mitochondrial dysfunction. Pyruvate has been proposed recently as a treatment option.
Spindle transfer, where the nuclear DNA is transferred to another healthy egg cell leaving the defective mitochondrial DNA behind, is a potential treatment procedure that has been successfully carried out on monkeys. Using a similar pronuclear transfer technique, researchers at Newcastle University successfully transplanted healthy DNA in human eggs from women with mitochondrial disease into the eggs of women donors who were unaffected. In September 2012 a public consultation was launched in the UK to explore the ethical issues involved. Human genetic engineering is already being used on a small scale to allow infertile women with genetic defects in their mitochondria to have children.
Embryonic mitochondrial transplant and protofection have been proposed as a possible treatment for inherited mitochondrial disease, and allotopic expression of mitochondrial proteins as a radical treatment for mtDNA mutation load.
Read more about this topic: Mitochondrial Disease
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