Researchers at the University of Geneva (UNIGE), Switzerland, have recently identified 45 new genes that cause blindness or cognitive problems, World Pharma News reports.

The scientists focused 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.

What are the results of taurine deficiency?

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. The geneticists at the University of Geneva hypothesized that a taurine supplement might make it possible to compensate for this deficiency. The supplement was given to a young girl suffering from the disease to help stop the progression of her visual degeneration and to treat her cardiomyopathy. 

Results from the study were reported in the journal Human Molecular Genetics.

Genomes of 500 Pakistani families studied

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.

We looked at Pakistani families because consanguineous marriage is still a common practice, with 50% of marriages taking place between first cousins", explains Stylianos Antonarakis, emeritus professor in UNIGE's Faculty of Medicine. "In fact, consanguinity increases the risk of developing a recessive genetic disease since about 12% of the genome is identical in cousins."

A reversible disease?

The scientists speculated that it might be possible to block the progression of the disease by administering taurine to the children. They brought the family to Geneva to conduct detailed investigations into this rare genetic disease. In addition to the progressive visual impairment, which was now unfortunately total in the case of the boy, the doctors diagnosed damage to the cardiac muscle in both children. The little girl fortunately still retained some residual vision.

Since taurine is a food supplement rather than a medicine, the Swiss Ethics Commission agreed that it could be administered orally. "We gave 100 mg per kg of taurine daily to the children to be continued over the long-term, and organized regular ophthalmologic and cardiac monitoring sessions in Pakistan", emphasizes Emmanuelle Ranza, a doctor and geneticist at University Hospitals Geneva (HUG) and UNIGE who was responsible for the clinical part of the study. The results quickly came about: in three days, the taurine levels in their blood jumped from 6 to 85 μ mol/l, reaching normal thresholds. And, after two years, the cardiomyopathy had completely disappeared in both children! In addition, the degeneration in the girl's sight was brought to a halt, and there was even an improvement, meaning she could move around by herself. Unfortunately, this development was not possible for the boy, who had already lost his entire retina.

Read the whole study HERE