How TAT-Frataxin works
Friedreich’s ataxia, or FA, is a rare, progressive condition that affects multiple systems in the body. It leads to loss of voluntary muscle control and coordination, abnormal curvature of the spine, and ultimately heart failure.
It is caused by mutations that stop the production of a protein called frataxin, which plays an important role in the mitochondria, cells’ energy-producing centers. Without frataxin, or FTX, free iron accumulates in the mitochondria, breaking the energy-production chain.
Chondrial Therapeutics developed a protein replacement therapy for FA. It involves a small-chain protein called the TAT peptide penetrating a cell to deliver functional frataxin to mitochondria.
Delivering TAT led to a fused TAT-frataxin protein that activated the energy-producing pathway in cells grown in a laboratory. It also corrected problems in the mice’s tissue, accelerated their growth and increased their lifespan. And it improved their heart and neurological function.
The research showed that a peptide that can enter an animal’s cells is able to deliver a functional mitochondrial protein, repairing a mutation. The results indicated that TAT-frataxin might be used as a protein replacement therapy to treat FA in humans. This would require clinical trials, of course.
A U.S. government agency called the National Center for Advancing Translational Sciences agreed in 2016 to allow one of its units to work with Chondrial Therapeutics to advance TAT-Frataxin’s development. That unit is the Therapeutics for Rare and Neglected Diseases program. Both are part of the National Institutes of Health.
The Therapeutics for Rare and Neglected Diseases team is working on a TAT-Frataxin formulation that it hopes can achieve success. It is also developing biochemical tests to evaluate the product. When these studies are completed, Chondrial will submit an investigational new drug application on TAT-Frataxin to the U.S. Food and Drug Administration. An FDA sign-off on the application would accelerate the process needed for approving the therapy.
Note: Friedreich’s Ataxia News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.