In a new study, researchers have identified a genetic mutation linked to a type of glaucoma, known as primary angle-closure glaucoma (PACG).
This could open up new avenues for the early detection and treatment of the disease.
The research was conducted by a team from the Queen Mary University of London and elsewhere.
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 team 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 analysis 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.
The study provides the first evidence that 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.
The team says this ground-breaking study identifies the first genetic cause of the disease, which will lead researchers to develop novel screening and treatment methods and also help to reveal other genes involved in this disease pathway.
This will help scientists identify those people at risk with greater certainty than ever before.
By understanding the cellular mechanisms at work in this disease, it may help doctors develop new, more effective treatments.
One author of the study is Dr. Ahmad Waseem, the Professor of Molecular and Cellular Oral Biology at Queen Mary.
The study is published in PLOS Genetics.
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