For the second time in two months, scientists reported the discovery of a gene linked to childhood glaucoma. This time it is a primary congenital glaucoma gene, a condition that affects about 2,000 infants and young children in the United States each year. The results described in the next month number Human Molecular Genetics , could lead to a genetic test, resulting in earlier diagnosis and treatment for a disease that can cause blindness. There
Four years Sarfarazi Mansoor and his colleagues at the University of Connecticut Health Center in Farmington began looking for families with more than one diagnosis of the state member, which is associated with a recessive gene. binding studies have failed to find a candidate gene, so that the group "began to filter across the genome at random," says Sarfarazi finally installed on chromosome 2. After months of grunt work to power genes, the band nailed their careers. they linked mutations in a gene called CYP1B1 disease Because CYP genes code for metabolic enzymes, Sarfarazi speculates that CYP1B1 codes for an enzyme that removes excess steroids, operating essentially "as an antitoxin," he said.
the finding comes on the heels of a report last January of a gene linked to juvenile glaucoma, what is striking in the teenage years ( science NOW January 30). These versions together represent less than 2% of glaucoma cases in total, most of which grow to adulthood . the juvenile glaucoma gene should shed more light on the adult form, said Ellen Liberman of the National eye Institute, because the subtle pathological changes in the eye in these forms are similar, while congenital version is characterized by abnormalities gross structural.
Nevertheless, the discovery of the CYP1B1 gene could prevent thousands of cases of blindness each year in the US and abroad - in particular, said Liberman, in countries " very first -cousin marriages "that tend to keep recessive genes. "This is a very important step that will provide a new dimension to neonatal care," said Jay Wisnicki, chairman of ophthalmology at Beth Israel Medical Center in New York. In fact, a test for the defect could detect about 85% of new -nés with the disease in afflicted families, says Kumar Chandrasekaran, President of InSite Vision of Alameda, California, which owns the licensing rights to explore and develop a genetic test.
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