The scientists speculated that it might be possible to block the progression of the disease by administering taurine to the children. Professor Keith Henry of the University of North Dakota showed that the genetic abnormality in the family from Pakistan reduced the carrying capacity of taurine to 15% of its normal level. Patients suffering from the disease have extremely low levels of taurine in their blood. "It's a dietary supplement found in large quantities in certain energy drinks," says Ansar. This gene produces a protein of the cell membrane that transports taurine, an amino acid that is especially important for the functioning of the retina and cardiac muscle. Their genome sequencing showed that their illness was linked to a mutation of the SLC6A6 gene," notes Muhammad Ansar, a researcher in the Genetics Department in UNIGE's Faculty of Medicine. "With the help of the Khyber Medical University in Pakistan, we collected blood samples of each family member. One family was a source of particular interest to the researchers: the two parents - healthy first cousins - had four children, two of whom were sick: a 15-year-old boy, who lost all his sight in a few years, and a 4-year-old girl, who was gradually losing her sight but was still able to make out shapes and colours. "In fact, consanguinity increases the risk of developing a recessive genetic disease since about 12% of the genome is identical in cousins." "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. 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. 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. You can read all about this innovation in the treatment of recessive genetic diseases in the journal Human Molecular Genetics.
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. The geneticists at the University of Geneva hypothesised that a taurine supplement might make it possible to compensate for this 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 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. Researchers at the University of Geneva (UNIGE), Switzerland, have recently identified 45 new genes that cause blindness or cognitive problems. It is estimated that there are 7,000 unknown genes that cause recessive genetic diseases resulting from mutations in two copies of a gene that have been inherited from each parent. Our genome consists of 20,000 genes, all of which may be capable of triggering disease.
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