UBAP1L Gene May Be Linked with Retinal Dystrophy: JAMA Ophthalmology Study - Video

In a small study of six unrelated participants, researchers linked the gene UBAP1L to different forms of retinal dystrophies. The patients had symptoms of retinal dystrophy starting in early adulthood and progressing to severe vision loss by late adulthood.

“The patients in this study showed symptoms and features similar to other inherited retinal diseases, but the cause of their condition was uncertain,” said Bin Guan, Ph.D., chief of the Ophthalmic Genomics Laboratory at NIH’s National Eye Institute (NEI) and a senior author of the report. “Now that we’ve identified the causative gene, we can study how the gene defect causes disease and, hopefully, develop treatment.”

Identifying the UBAP1L gene’s involvement adds to the list of more than 280 genes responsible for this heterogeneous disease.

“These findings highlight the importance of providing genetic testing to our patients with retinal dystrophy, and the value of the clinic and lab working together to better understand retinal diseases,” said co-senior author on the paper, Laryssa A. Huryn, M.D., an ophthalmologist at the NEI, part of the National Institutes of Health.

Genetic evaluation of the six patients revealed four variants in the UBAP1L gene, which encodes for a protein that is abundantly expressed in retina cells, including retinal pigment epithelium cells and photoreceptors. More research is needed to understand the UBAP1L gene’s exact function, but scientists were able to determine that the identified variants likely cause the gene to produce a protein that lacks function.

Reference: Ullah E, Lin S, Lu J, Bender C, Webster AR, Malka S, Madusudhan S, Rees E, Williams D, Agather AR, Cukras CA, Hufnagel RB, Chen R, Huryn LA, Arno G, Guan B. “Biallelic loss-of-function variants in UBAP1L and nonsyndromic retinal dystrophies,” September 26, 2024, JAMA Ophthalmology. https://doi.org/10.1001/jamaophthalmol.2024.3836