Study Reveals a Potential Technique That Can Edit Genes and Cure Mitochondrial Diseases

Essentially, a mitochondrion is a special organelle in eukaryotes that synthesizes energy. They constitute a very tiny percentage of the human overall genome but, make no mistake, they have one of the most vital roles. These special organelles are coded by a special combination of DNA base pairs. There are a lot of conditions that spin-off from a mutation in this delicate combination of base pairs. It even gets scarier, as an offspring can inherit these conditions from the mother.



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Sadly, these diseases have been designated as ‘incurable’ for a long while. Although they are a bit rare when they occur, they are usually fatal and hopeless. Fortunately, there is a study carried out at the University of Cambridge that has demonstrated prospective new therapy for such conditions.

Mitochondrial conditions can be cured with aid of gene-editing technologies

The breakthrough in curing mitochondrial conditions is rooted in technologies for gene editing. The team carried out a series of studies in mice that showed that gene editing in live animals was indeed very possible. Averagely, a human cell houses about 1000 mitochondria, at every point, there are always damaged mitochondria and healthy mitochondria. The levels of the mitochondria with a mutation in relation to the mitochondria without mutation will determine the presence and severity of mitochondria disease.

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The quest to edit mitochondrial spelling errors was pioneered by an MRC Mitochondrial Biology team from the University of Cambridge back in 2018. This team was successful in developing a biological tool that could selectively target and destroy defective genes in the mitochondria. By getting rid of these bad mitochondria they afforded new, mitochondria [that had no mutation] the space to grow.

To put it differently, the earlier attempts to correct mitochondrial DNA defects heavily depended on the cells being healthy enough to divide.

Recently, Dr. Minczuk and his team employed a technology, called mitochondrial base editor. This technology is used to edit the base pairs mitochondria. The therapy is placed into the mouse circulation using an engineered virus. This virus and editor are engulfed by cells where they can function. In the cell, the mitochondrial base editor locates special base combinations of A, C, G, and T base pair combinations. Afterward, it alters the DNA base, substituting C for T. In essence, this maneuver corrects the defects that may have resulted from bad combinations of base pairs.

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Although the technology was promising, to understudy this technology in mice is a bit challenging because mice do not have mitochondrial illnesses. As such, the researchers had to use perfectly healthy mice to experiment with their new technique. The study, was largely successful, as it showed that editing is very doable.

One of the scientists on the project, Pedro Silva-Pinheiro points out that this is the first time DNA base pairs of mitochondria have been altered. This leap means that scientists can now successfully treat conditions that are caused by mutations in mitochondria.

Clinical significance

Researchers on this project agree that, although the technology is young,  this technology could provide a lifeline for these patients ill with mitochondrial conditions. By eliminating the difficulty of mitochondrial replacement, the technology will remedy mitochondrial defects in young and old alike.


For a long while, mitochondrial conditions have been deemed incurable. It gets worse as an affected mother can pass the gene and disease to her children. This technology is a ‘breather’ and represents hope for the once hopeless and incurable reaches of medicine.

Read Also: Mitochondrial Damage Can Cause Osteoporosis According to Study


In vivo mitochondrial base editing via adeno-associated viral delivery to mouse post-mitotic tissue



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