Group has discovered dozens of new genes that lead to recessive genetic diseases
With an estimated 7,000 unknown genes available to cause recessive genetic diseases, and with potential mutations in two copies of a gene that have been inherited from each parent, researchers are plenty busy studying for causes. But recently, researchers at the University of Geneva (UNIGE), Switzerland, have identified 45 new genes that cause blindness or cognitive problems.
The scientists focused in particular on the SLC6A6 gene, which encodes a transporter protein that carries an amino acid essential for the functioning of the retina and cardiac muscle: taurine. According to World Pharma News, when there are pathogenic mutations of the SLC6A6 gene, an individual will suffer from a lack of taurine and will gradually lose his sight until he becomes blind within a few years and develops a weak heart.
Geneticists at the University of Geneva believed a taurine supplement might make it possible to compensate for the deficiency. To test theory, a young girl with the condition was administered the supplement to help stop the progression of her visual degeneration and treat her cardiomyopathy. The results were published in a recent issue of Human Molecular Genetics.
Recessive genetic diseases such as cystic fibrosis are the result of a mutation in the two copies of the same gene inherited from each parent. Researchers from UNIGE, working in collaboration with scientists from Pakistan, studied the genomes of 500 Pakistani families who had ill and healthy children in order to identify as many genes as possible that cause these conditions.
“With the help of the Khyber Medical University in Pakistan, we collected blood samples of each family member. Their genome sequencing showed that their illness was linked to a mutation of the SLC6A6 gene,” said Muhammad Ansar, a researcher in the Genetics Department in UNIGE’s Faculty of Medicine.
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SOURCE: World Pharma News
