Study in mice shows potential for gene-editing to tackle mitochondrial disorders
Defective mitochondria -- the 'batteries' that power the cells of our bodies -- could in future be repaired using gene-editing techniques. Scientists at the University of Cambridge have shown that it is possible to modify the mitochondrial genome in live mice, paving the way for new treatments for incurable mitochondrial disorders.Our cells contain mitochondria, which provide the energy for our cells to function.
There are typically around 1,000 copies of mitochondrial DNA in each cell, and the percentage of these that are damaged, or mutated, will determine whether a person will suffer from mitochondrial disease or not. Usually, more than 60% of the mitochondria in a cell need to be faulty for the disease to emerge, and the more defective mitochondria a person has, the more severe their disease will be. If the percentage of defective DNA could be reduced, the disease could potentially be treated.
In 2018, a team from the MRC Mitochondrial Biology Unit at the University of Cambridge applied an experimental gene therapy treatment in mice and were able to successfully target and eliminate the damaged mitochondria DNA in heteroplasmic cells, allowing mitochondria with healthy DNA to take their place."Our earlier approach was very promising and was the first time that anyone had been able to alter mitochondrial DNA in a live animal," explained Dr Michal Minczuk.
Pedro Silva-Pinheiro, a postdoctoral researcher in Dr Minczuk's lab and first author of the study, said:"This is the first time that anyone has been able to change DNA base pairs in mitochondria in a live animal. It shows that, in principle, we can go in and correct spelling mistakes in defective mitochondrial DNA, producing healthy mitochondria that allow the cells to function properly.
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