In addition to being able to stop the progression of eye diseases and treat heart diseases by giving a nutritional supplement, a new gene that has pathogenic mutations that cause blindness and heart muscle disease has been discovered by a Swiss scientific team from the University of Geneva. This discovery coincides with researchers recently being able to identify 45 new genes that cause blindness or problems. perceptual.
The SLC6A6 gene, which codes for a transport protein that transports taurine, an amino acid required for the proper operation of the retina and heart muscle, was the subject of particular attention for the Swiss researchers. Taurine is an amino acid that weakens the heart muscle and causes a slow loss of vision that eventually results in blindness within a few years.
The research team reasoned that this shortage might be able to be made up for by taurine acid.
After seeing that individuals with this disease had incredibly low amounts of this acid in their blood, the team administered the amino acid to a young girl who was afflicted with the disease. This was done to aid in the advancement of her visual atrophy and the therapy of cardiomyopathy.
The new study demonstrates, for the first time, that the retina and heart can be successfully treated with an oral supplement.
According to scientists, there are 6000 kids worldwide who have the condition caused by the gene (SLC6A6).
A gene whose pathogenic mutations result in blindness and heart muscle dysfunction is discovered by Swiss researchers.
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