Ophthalmology, Research

Genetic mutation responsible for Bardet-Biedl found

In a development that could lead to new treatments for the condition, a genetic mutation responsible for Bardet-Biedl Syndrome (BBS) has been isolated in monkeys.

Researchers from Oregon Health and Science University (OHSU) have isolated a mutation of an individual gene (BBS7), one of at least 14 genes associated with the condition, in three affected rhesus macaques.

In addition to vision loss, Bardet-Biedl Syndrome, a condition part of the broader family of retinitis pigmentosa diseases, can cause kidney dysfunction and the development of extra fingers or toes.

“There is no cure for Bardet-Biedel Syndrome today, but having a naturally occurring animal model for the condition could help us find one in the future,” Dr Martha Neuringer, the paper’s author, said.

The breakthrough was made when the genomes of two related monkeys lacking key vision cells had their genomes compared against one another. After a mutation of BBS7 was found in both, the result was compared against the genetic records of 2,000 rhesus macaques kept at OHSU’s nonhuman primate research centre.

Based on this a third monkey with the condition was found, although its excellent adaption within its social group led to the impairment being overlooked. The third monkey is now being observed in order to better understand how the disease progresses.

The team is hopeful their discovery could lead to the development of a treatment for the disorder, much like how studies in dogs have recently led to a gene therapy for Leber’s congenital amaurosis. The next step in the project involves breeding more animals with the naturally occurring BBS7 mutation to compare against.

Depending on the results it is hoped the research could lead to treatments for retinitis pigmentosa.

The findings have been published in the journal Experimental Eye Research.