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
First U.S. H5N1 Death Sparks Urgency: Scientists Warn Bird Flu Is Mutating Faster Than Expected
A human strain of H5N1 bird flu isolated in Texas shows mutations enabling better replication in human cells and causing more severe disease in mice compared to a bovine strain. While the virus isn’t [...]
AI Breakthrough in Nanotechnology Shatters Limits of Precision
At TU Graz, a pioneering research group is leveraging artificial intelligence to drastically enhance the way nanostructures are constructed. They aim to develop a self-learning AI system that can autonomously position molecules with unprecedented precision, potentially [...]
How Missing Sleep Lets Bad Memories Haunt Your Mind
Research reveals that a lack of sleep can hinder the brain’s ability to suppress unwanted memories and intrusive thoughts, emphasizing the importance of restful sleep for mental health. Sleep deprivation has been found to [...]
WHO issues new warning over ‘mystery virus’ and calls for return of COVID restrictions
The World Health Organization (WHO) has called for the reinstatement of restrictions implemented during the COVID-19 pandemic as cases of human metapneumovirus (HMPV) continue to surge. While hospitals in China are overwhelmed with positive [...]
A Breath Away From a Cure: How Xenon Gas Could Transform Alzheimer’s Treatment
A breakthrough study highlights Xenon gas as a potential game-changer in treating Alzheimer’s disease, demonstrating its ability to mitigate brain damage and improve cognitive functions in mouse models. A forthcoming clinical trial aims to test its [...]
False Memories Under Fire: Surprising Science Behind What We Really Recall
New research challenges the ease of implanting false memories, highlighting flaws in the influential “Lost in the Mall” study. By reexamining the data from a previous study, researchers found that many supposed false memories [...]
Born Different? Cambridge Scientists Uncover Innate Sex Differences in Brains
Cambridge researchers found that sex differences in brain structure exist from birth, with males having more white matter and females more grey matter, highlighting early neurodiversity. Research from the Autism Research Centre at the University [...]
New study shows risk factors for dementia – virus causes deposits in the brain
Research into the causes of Alzheimer's is not yet complete. Now a new study shows that head trauma can activate herpes viruses and promote the disease. Frankfurt am Main – As a neurodegenerative disease, [...]
Are Machines Truly Thinking? Modern AI Systems Have Finally Achieved Turing’s Vision
Modern AI systems have fulfilled Turing’s vision of machines that learn and converse like humans, but challenges remain. A new paper highlights concerns about energy consumption and societal inequality while calling for more robust [...]
The Surprising Link Between Smell, Sound, and Emotions
New research reveals how smell and hearing interact in the brain to drive social behavior, using mouse maternal instincts as a model. Imagine you’re at a dinner party, but you can’t smell the food [...]
Brain cells age at different rates
As our body ages, not only joints, bones and muscles wear out, but also our nervous system. Nerve cells die, are no longer fully replaced, and the brain shrinks. "Aging is the most important risk factor [...]
Long COVID Breakthrough: Spike Proteins Persist in Brain for Years
Researchers have discovered that the SARS-CoV-2 spike protein persists in the brain and skull bone marrow for years after infection, potentially leading to chronic inflammation and neurodegenerative diseases. Researchers from Helmholtz Munich and Ludwig-Maximilians-Universität (LMU) have [...]
Water-Resistant Paper Could Revolutionize Packaging and Replace Plastic
A groundbreaking study showcases the creation of sustainable hydrophobic paper, enhanced by cellulose nanofibres and peptides, presenting a biodegradable alternative to petroleum-based materials, with potential uses in packaging and biomedical devices. Researchers aimed to [...]
NIH Scientists Discover Game-Changing Antibodies Against Malaria
Novel antibodies have the potential to pave the way for the next generation of malaria interventions. Researchers at the National Institutes of Health (NIH) have identified a novel class of antibodies that target a previously unexplored region [...]
Surprising Discovery: What If Some Cancer Genes Are Actually Protecting You?
A surprising discovery reveals that a gene previously thought to accelerate esophageal cancer actually helps protect against it initially. This pivotal study could lead to better prediction and prevention strategies tailored to individual genetic [...]
The Cancer Test That Exposes What Conventional Scans Miss
Researchers at UCLA have unveiled startling findings using PSMA-PET imaging that reveal nearly half of patients diagnosed with high-risk prostate cancer might actually have metastases missed by traditional imaging methods. This revelation could profoundly affect future [...]