New gene linked to retinitis pigmentosa in people with African ancestry
Key Takeaways
- A team of genetic researchers has identified a mutation in the gene TMEM216 as a common cause of retinitis pigmentosa (RP) in people with African ancestry.
- According to the researchers, the discovery will allow doctors to genetically diagnose many more RP patients with African ancestry
By evaluating the genomes of about 3,000 patients with inherited retinal disease, a team of genetic researchers from the UK, US, and Switzerland has identified a mutation in the gene TMEM216 as a common cause of RP in people with African ancestry. The team estimates that approximately 20-30 percent of all RP patients with African descent are homozygous for this mutation — that is, both copies of their TMEM216 gene have the mutation, leading to RP. In addition, the researchers found that 29 individuals from nine families with Pakistani ancestry had a different mutation in the same gene. The genetic breakthrough was reported during a poster session at the 2024 Annual Meeting of the Association for Research in Vision and Ophthalmology.
“Our discovery is important because the retinal disease research community lacks clinical and genetic information for many people with retinal conditions who have non-European descent. Because these patients and families are under-represented, we have a more difficult time diagnosing their retinal conditions,” says Dr. Radha Ayyagari, PhD, chief of Ophthalmic Molecular Genetics at Shiley Eye Institute, University of California, San Diego, who co-led the study. “As a relatively common cause of RP in Africans, the TMEM216 mutation was hiding in plain sight. Most important, the discovery will help us genetically diagnose many more RP patients with African ancestry.”
Dr. Ayyagari’s team is conducting additional lab studies to confirm that the TMEM216 mutations are causing retinal degeneration.
Edited by Miriam Kaplan, PhD
Source: Foundation Fighting Blindness, Eye on the Cure Research News, May 14, 2024; see source article