04.11.2014

Gene mutations "lead to Usher syndrome"

Gene mutations "lead to Usher syndrome"

A new investigation has established a link between certain gene mutations and a condition which affects both the sight and hearing.

Usher syndrome, a genetic disorder characterised by congenital deafness and gradual vision loss, is the leading cause of deafblindness in the world, but experts in Germany believe they have found a major cause of the condition.

Hanno Bolz and colleagues at the University of Cologne have found that mutations in the PDZD7 gene contribute to Usher syndrome.

In their study, the experts only identified the PDZD7 in patients with mutations in other known Usher genes, but further analysis indicated that PDZD7 mutations can modify the severity of the vision loss suffered by patients.

"These data challenge the prevailing view that Usher syndrome arises as a result of mutations in a single gene, suggesting that, at least in some instances, disease arises as a result of mutations in two genes," the team claimed.

Meanwhile, veterinary vision scientists at the University of Pennsylvania have successfully used a viral vector in targeting a class of photoreceptors of the retina called rods, which has "set the stage" for new blindness treatments.

by Alexa Kaczka


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