Researchers uncover genetic cause behind glaucoma
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New research has identified a genetic mutation linked to a type of glaucoma, known as primary angle-closure glaucoma (PACG), which could open up new avenues for the early detection and treatment of the disease. In the study, published in PLOS Genetics, researchers from Queen Mary University of London,studied the genetics of a Caucasian family with a strong family history of PACG to identify potential disease-causing genes.

The research team found mutations in the gene Spermatogenesis Associated Protein 13, or SPATA13, caused PACG in the seven generation family. They were also able to identify other mutations in the SPATA13 gene linked to PACG in another family and individuals with the disease.
Further investigation found that the SPATA13 gene was also highly expressed in the parts of the eye affected by the disease, confirming the results of the genetic studies.

Glaucoma is the most common cause of irreversible blindness worldwide, affecting nearly 80 million people. PACG accounts for around 50% of glaucoma blindness worldwide, however until now the precise genetic mutations that cause the disease was unknown.

The study provides the first evidence that the SPATA13 gene is one of the main genes involved in eye disease, and the results will help researchers to identify other genes implicated in the development of PACG.