A joint study by the Indian and foreign scientists have claimed that they have identified three new cataract-causing genes, which are often carried on for many generations in families in India.
Scientists from the Center for Genetic Disorders of Guru Nanak Dev University in collaboration with researchers from the National Institute of Health, USA and the Institute of Human Genetics in Berlin have claimed after 30 years of research in the field of ophthalmology, to discover three genes that cause cataracts.
The research team led by Dr Jai Rup Singh the Coordinator at the Center for Genetic Disorders achieved the breakthrough by identifying and localizing the genes in Indian families. It was stated that the three genes identified by the scientists cause fan-shaped cataract, cerulean cataract and sutural cataract. Dr Jai Rup Singh, while releasing his research work among press, stated that this research had been carried out on congenital cataract for the past 30 years.
Explaining that they had collected DNA samples from more than 2,400 persons suffering from genetic disease of the eye, he said that the DNA analysis on these cases was initiated in 1990. He further stated that the DNA analysis on many more families with congenital cataract is still in progress. Singh explained that the first breakthrough came in 2001 when two new genes were identified. The first of these, was a fan-shaped cataract gene that is caused by a single nucleotide alteration which changes the structure of alpha-crystalline, an essential lens protein, ultimately leading to congenital cataract that is associated with micro cornea.
The second cataract-causing gene that leads to Cerulean Cataract was discovered during molecular studies by Singh's team that identified a new type of mutation found in a family of three generations. Singh explained that they found that in this case the replacement of Lysine, an amino acid, with Arginine was found to ultimate lead to Cerulean cataract. He also stated that, the two genes, along with a newly discovered third, have been localized to Indian families.
Singh said that congenital cataract affected about three per 10,000 newborns and was one of the significant causes of blindness in children and often led to life-long visual disability. There is hope that with this discovery there could be a possible breakthrough in finding possible cures for the disease that affects many newborns causing blindness and other visual problems.