A new genetic discovery within horses may open the door to many new medical advancements, and may provide new treatments for cystic fibrosis and many more inherited diseases. Horses with improves stamina have adapted to overcome a mutation in the KEAP1 protein structure. KEAP1 is part of a pathway alone with NRF2 that exists in all vertebrates and plays a role in protecting the bodies cells from oxidative stress. This pathway is also critical in metabolism. The mutation in the KEAP1 protein leads to a premature STOP codon.
What surprised the researchers is that the horses have figured out a way to work around this STOP codon. The cells have evolved to be able to recode the signal, and allow for full translation of the gene. This is the first time this kind of skill has been seen outside of viruses, which need to alter cell DNA in order to replicate itself. What a discovery! This opens the doors for more ideas on how this can be used for treatments of diseases that are caused by a premature STOP codon.
This evolved trait also shows that it makes the KEAP1 protein much more efficient, boosting NRF2 and allowing for more endurance and stamina during intense physical activity, and protecting the cells from reactive oxygen species. This means that this mutation may also help aid in treating age related diseases.
It's amazing that horses have naturally developed a way to bypass a premature STOP codon, which is something we've only seen in viruses until now. This could lead to incredible progress in treating many genetic diseases, such as, cystic fibrosis.
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