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Cataract gene identified
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SHANGHAI, China — A gene responsible for congenital cataract has been identified by scientists working here and in Canada. This same mutation may be responsible for some adult cataracts as well, the researchers said.
A mutant gene, called heat-shock transcription factor 4 or HSF4, affects the eye's protein arrangement and causes congenital cataract, researchers with the Shanghai Institutes for Biological Sciences said.
They studied Chinese families with a history of inherited congenital cataract. Once the gene defect was identified, they confirmed their findings by looking for a similar mutation in members of a Danish family with a similar history.
Researchers believe the discovery may lead to a prenatal test for congenital cataract.
“When we looked at 69 adults with sporadic cataracts, we found this same mutation in two cases,” Michael Hayden, MD, of the University of British Columbia told United Press International. Dr. Hayden was one of the lead researchers on the project. He said the findings indicate HSF4 may also play a role in adult cataracts.
The study is published in the British journal Nature Genetics.