27.04.2012

Glaucoma detection "on the horizon"

Glaucoma detection "on the horizon"

By Adrian Galbreth

New ways of detecting glaucoma could be in the pipeline, according to experts working on a new study in the US.

Results from the largest ever genetic study of glaucoma at Massachusetts Ear and Eye showed that two genetic variations are associated with primary open angle glaucoma (POAG), a common form of the disease.

As Glaucoma is a leading cause of blindness and vision loss worldwide, experts say that identification of the genes responsible for this disease is the first step toward the development of gene-based disease detection and treatment.

Researchers led by Dr Janey Wiggs and Dr Lou Pasquale, co directors of the Harvard Glaucoma Center of Excellence, analysed DNA sequences of 6,633 participants, half of whom had POAG, and all of whom were part of two NIH funded studies conducted at 12 sites in the US.

The results, which were published online in PLoS Genetics, found that two variations were associated with POAG, including normal pressure glaucoma (NPG), which affects a third of glaucoma patients.

According to the experts, one variant is in a gene located on chromosome 9 called CDKN2BAS, while the other variant is in a region of chromosome 8 where it may affect the expression of genes LRP12 or ZFPM2.

Specialists say genes may interact with transforming growth factor beta (TGF-beta), a molecule that regulates cell growth and survival throughout the body, which previous studies have also suggested is connected to glaucoma.

Dr Wiggs explained: "This study has provided important new insights into the disease pathogenesis and will make future studies focused on translating this information into the clinic possible. Ultimately we hope to prevent blindness caused by this very common eye disease."

Dr Hemin Chin, associate director for Ophthalmic Genetics at the National Eye Institute, added that the study has identified an important molecular pathway in the development of POAG, adding that control of TGF-beta might lead to more effective therapies for the blinding disease.

by Adrian Galbreth


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