Findings supported by the NIH pave the way for the development of genetic testing, clinical trials, and therapies.
Researchers at the National Institutes of Health (NIH) and their collaborators have discovered a gene linked to certain inherited retinal diseases (IRDs). These diseases, which impair the eye's light-sensitive retina and pose a threat to vision, collectively affect over 2 million people globally. However, each specific disease is rare, making it challenging to gather enough participants for research and clinical trials to develop effective treatments. The findings of the study were published in JAMA Ophthalmology.
In a small study of six unrelated participants, researchers linked the gene UBAP1L to different forms of retinal dystrophies, with issues affecting the macula, the part of the eye used for central vision such as for reading (maculopathy), issues affecting the cone cells that enable color vision (cone dystrophy) or a disorder that also affects the rod cells that enable night vision (cone-rod dystrophy). The patients had symptoms of retinal dystrophy starting in early adulthood, progressing to severe vision loss by late adulthood.
"The patients in this study showed symptoms and features similar to other IRDs, 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."
Importance of Genetic Testing in Retinal Dystrophies
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 protein that lacks function.
Future studies will also be informed by the fact that variants appear to be distinctive to geographic regions. Five of the six families in this study were from South or Southeastern Asia, or Polynesia, regions that have been underrepresented in genetic studies.
Reference: "Biallelic Loss-of-Function Variants in UBAP1L and Nonsyndromic Retinal Dystrophies" by Ehsan Ullah, Siying Lin, Jiaxiong Lu, Chelsea Bender, Andrew R. Webster, Samantha Malka, Savita Madhusudhan, Emma Rees, Denise Williams, Aime R. Agather, Catherine A. Cukras, Robert B. Hufnagel, Rui Chen, Laryssa A. Huryn, Gavin Arno and Bin Guan, 26 September 2024, JAMA Ophthalmology.
DOI: 10.1001/jamaophthalmol.2024.3836
News
How lipid nanoparticles carrying vaccines release their cargo
A study from FAU has shown that lipid nanoparticles restructure their membrane significantly after being absorbed into a cell and ending up in an acidic environment. Vaccines and other medicines are often packed in [...]
New book from NanoappsMedical Inc – Molecular Manufacturing: The Future of Nanomedicine
This book explores the revolutionary potential of atomically precise manufacturing technologies to transform global healthcare, as well as practically every other sector across society. This forward-thinking volume examines how envisaged Factory@Home systems might enable the cost-effective [...]
A Virus Designed in the Lab Could Help Defeat Antibiotic Resistance
Scientists can now design bacteria-killing viruses from DNA, opening a faster path to fighting superbugs. Bacteriophages have been used as treatments for bacterial infections for more than a century. Interest in these viruses is rising [...]
Sleep Deprivation Triggers a Strange Brain Cleanup
When you don’t sleep enough, your brain may clean itself at the exact moment you need it to think. Most people recognize the sensation. After a night of inadequate sleep, staying focused becomes harder [...]
Lab-grown corticospinal neurons offer new models for ALS and spinal injuries
Researchers have developed a way to grow a highly specialized subset of brain nerve cells that are involved in motor neuron disease and damaged in spinal injuries. Their study, published today in eLife as the final [...]
Urgent warning over deadly ‘brain swelling’ virus amid fears it could spread globally
Airports across Asia have been put on high alert after India confirmed two cases of the deadly Nipah virus in the state of West Bengal over the past month. Thailand, Nepal and Vietnam are among the [...]
This Vaccine Stops Bird Flu Before It Reaches the Lungs
A new nasal spray vaccine could stop bird flu at the door — blocking infection, reducing spread, and helping head off the next pandemic. Since first appearing in the United States in 2014, H5N1 [...]
These two viruses may become the next public health threats, scientists say
Two emerging pathogens with animal origins—influenza D virus and canine coronavirus—have so far been quietly flying under the radar, but researchers warn conditions are ripe for the viruses to spread more widely among humans. [...]
COVID-19 viral fragments shown to target and kill specific immune cells
COVID-19 viral fragments shown to target and kill specific immune cells in UCLA-led study Clues about extreme cases and omicron’s effects come from a cross-disciplinary international research team New research shows that after the [...]
Smaller Than a Grain of Salt: Engineers Create the World’s Tiniest Wireless Brain Implant
A salt-grain-sized neural implant can record and transmit brain activity wirelessly for extended periods. Researchers at Cornell University, working with collaborators, have created an extremely small neural implant that can sit on a grain of [...]
Scientists Develop a New Way To See Inside the Human Body Using 3D Color Imaging
A newly developed imaging method blends ultrasound and photoacoustics to capture both tissue structure and blood-vessel function in 3D. By blending two powerful imaging methods, researchers from Caltech and USC have developed a new way to [...]
Brain waves could help paralyzed patients move again
People with spinal cord injuries often lose the ability to move their arms or legs. In many cases, the nerves in the limbs remain healthy, and the brain continues to function normally. The loss of [...]
Scientists Discover a New “Cleanup Hub” Inside the Human Brain
A newly identified lymphatic drainage pathway along the middle meningeal artery reveals how the human brain clears waste. How does the brain clear away waste? This task is handled by the brain’s lymphatic drainage [...]
New Drug Slashes Dangerous Blood Fats by Nearly 40% in First Human Trial
Scientists have found a way to fine-tune a central fat-control pathway in the liver, reducing harmful blood triglycerides while preserving beneficial cholesterol functions. When we eat, the body turns surplus calories into molecules called [...]
A Simple Brain Scan May Help Restore Movement After Paralysis
A brain cap and smart algorithms may one day help paralyzed patients turn thought into movement—no surgery required. People with spinal cord injuries often experience partial or complete loss of movement in their arms [...]
Plant Discovery Could Transform How Medicines Are Made
Scientists have uncovered an unexpected way plants make powerful chemicals, revealing hidden biological connections that could transform how medicines are discovered and produced. Plants produce protective chemicals called alkaloids as part of their natural [...]
