(Press-News.org) Scientists at the National Institutes of Health (NIH) and their colleagues have identified a gene responsible for some inherited retinal diseases (IRDs), which are a group of disorders that damage the eye’s light-sensing retina and threatens vision. Though IRDs affect more than 2 million people worldwide, each individual disease is rare, complicating efforts to identify enough people to study and conduct clinical trials to develop treatment. The study’s findings published today 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.”
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.
The research was co-led by investigators at Moorfields Eye Hospital and University College London.
The study was funded by the Intramural Research Program at the NEI, and by NEI grants R01EY022356 and R01EY020540. Researchers at the University of Liverpool (UK), and Baylor College of Medicine, Houston, Tx also contributed to this report.
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
END
Scientists discover gene responsible for rare, inherited eye disease
NIH-supported findings pave the way for genetic testing, clinical trials, and therapy development
2024-09-26
ELSE PRESS RELEASES FROM THIS DATE:
Scientists discover "pause button" in human development
2024-09-26
In some mammals, the timing of the normally continuous embryonic development can be altered to improve the chances of survival for both the embryo and the mother. This mechanism to temporarily slow development, called embryonic diapause, often happens at the blastocyst stage, just before the embryo implants in the uterus. During diapause, the embryo remains free-floating and pregnancy is extended. This dormant state can be maintained for weeks or months before development is resumed, when conditions are favorable. Although not all mammals use this reproductive ...
Replica symmetry breaking in 1D Rayleigh scattering system: Theory and validations
2024-09-26
In both the natural world and human society, there commonly exist complex systems such as climate systems, ecological systems, and network systems. Due to the involvement of numerous interacting elements, complex systems can stay in multiple different states, and their overall behavior generally exhibits randomness and high disorder. For example, due to the complex interactions between factors such as solar radiation, terrain, and ocean currents, the climate system can exhibit various states like sunny, cloudy, and rainy. The dynamic changes and mutual influences of these factors make the behavior of the climate highly uncertain and difficult to predict accurately. For instance, the formation ...
New research identifies strong link between childhood opportunities and educational attainment and earnings as a young adult
2024-09-26
Washington, September 26, 2024—The number of educational opportunities that children accrue at home, in early education and care, at school, in afterschool programs, and in their communities as they grow up are strongly linked to their educational attainment and earnings in early adulthood, according to new research. The results indicate that the large opportunity gaps between low- and high-income households from birth through the end of high school largely explain differences in educational and income achievement ...
Statement by NIH on research misconduct findings
2024-09-26
EMBARGOED FOR RELEASE
Thursday, September 26, 2024 - 9 a.m. EDT
Contact:
NIH Office of Communications and Public Liaison
NIH News Media Branch
301-496-5787
Statement by NIH on Research Misconduct Findings
Following an investigation, the National Institutes of Health (NIH) has made findings of research misconduct against Eliezer Masliah, M.D., due to falsification and/or fabrication involving re-use and relabel of figure panels representing different experimental results in two publications. NIH will notify the two journals of its findings so that appropriate action can be taken. NIH initiated its research misconduct review process ...
Pregnant women who sleep less than 7 hours a night may have children with developmental delays
2024-09-26
WASHINGTON—Pregnant women who do not get enough sleep may be at higher risk of having children with neurodevelopmental delays, according to new research published in the Endocrine Society’s Journal of Clinical Endocrinology & Metabolism.
Short sleep duration (SSD) is defined as sleeping less than seven hours per night. Pregnant woman may have trouble sleeping due to hormonal changes, pregnancy discomfort, frequent urination, and other factors.
It’s been reported that almost 40% of pregnant women have SSD. These women may have ...
ESO telescope captures the most detailed infrared map ever of our Milky Way
2024-09-26
Astronomers have published a gigantic infrared map of the Milky Way containing more than 1.5 billion objects ― the most detailed one ever made. Using the European Southern Observatory’s VISTA telescope, the team monitored the central regions of our Galaxy over more than 13 years. At 500 terabytes of data, this is the largest observational project ever carried out with an ESO telescope.
“We made so many discoveries, we have changed the view of our Galaxy forever,” says Dante Minniti, ...
An edible toothpaste-based transistor
2024-09-26
Milan (Italy), 26 September 2024 - A toothpaste-based transistor is the latest innovation from the research team at the Istituto Italiano di Tecnologia (IIT-Italian Institute of Technology) in Milan, which pushes the boundaries of edible electronics. This innovative nano-device is expected to become a key component of future smart pills, designed to monitor health conditions from within the body and then safely dissolve after completing their function. The research findings have been published in the journal Advanced Science.
Several commercial toothpaste formulations contain crystals of copper phthalocyanine, a blue pigment that acts as a whitening ...
Increased antioxidants and phenolic compounds produced in salted red perilla leaves during Japanese apricot pickling
2024-09-26
The diverse biochemical composition of Japanese apricot fruits explains their broad spectrum of action on the human body. The high levels of key phenolic compounds and hydroxycinnamic acids contribute to various health benefits including anti-inflammatory, antioxidant, and antimicrobial properties.
A recent study published in Food Research International on July 19, 2024, led by Prof. Yukiharu Ogawa and Jutalak Suwannachot from Chiba University, quantitatively evaluated the changes in phenolic compounds and antioxidant activity during the production of Shiso-zuke Umeboshi (PP). The study also simulated the digestive process to characterize the release of these compounds and ...
Unlocking the energy crisis in Parkinson’s: New findings offer hope for future treatment
2024-09-26
Parkinson’s disease (PD), the second most common neurodegenerative disorder globally, has long baffled scientists with its progressive nature and debilitating effects on motor function.
A recent study from the School of Medicine at Fujita Health University has brought new insights into the metabolic disruptions experienced by patients with PD. By analyzing the blood and cerebrospinal fluid (CSF) of the patients, researchers have discovered critical impairments in purine metabolism and the recycling of adenosine triphosphate (ATP)—the molecule responsible for energy production in cells.
For years, scientists have noted the decreased levels ...
‘Weekend warrior’ physical activity may help protect against more than 200 diseases
2024-09-26
Busy with work and other obligations, some people concentrate their moderate-to-vigorous exercise in one or two days of the week or weekend. A study led by investigators at Massachusetts General Hospital, a founding member of the Mass General Brigham healthcare system, has found that this “weekend warrior” pattern of exercise is associated with lower risk of developing 264 future diseases and was just as effective at decreasing risk as more evenly distributed exercise activity. Results are published in Circulation.
“Physical activity is known to affect risk of many diseases,” said ...
LAST 30 PRESS RELEASES:
Breakthrough in zinc-based rechargeable batteries: A safer, sustainable alternative
"Superman" bacteria offer a sustainable boost to chemical production
FunMap reveals a functional network of genes and proteins in human cancer
First full characterization of kidney microbiome unlocks potential to prevent kidney stones
IMDEA Software researchers present MixBuy, a protocol for secure and privacy-preserving digital purchases
Having a good breakfast reduces cardiovascular risk
New study reveals provincial and territorial inequities and inadequacies in access to medications and treatment for cardiovascular conditions in Canada
Pre-seed funding to recolor the world greener
New research unlocks jaw-dropping evolution of lizards and snakes
Cardiorespiratory fitness linked to preservation of cognitive abilities in older age
Around 1 in 5 of the world’s under 50s living with genital herpes (HSV)
Cutting early life exposure to parental smoking may lower MS risk in genetically prone
High-flow nasal oxygen vs noninvasive ventilation in patients with acute respiratory failure
Flexible hibernation could help hedgehogs adapt to environmental changes
What is a unit of nature? New framework shows the challenges involved with establishing a biodiversity credit market
NYCEDC and NYU Tandon launch applications for new digital game design incubator
Soda taxes don’t just affect sales. They help change people’s minds.
Early restrictive vs liberal oxygen for trauma patients
Enabling AI to explain its predictions in plain language
A greener, cleaner way to extract cobalt from ‘junk’ materials
Better environmental performance boosts profits and cuts costs
Making self-driving cars safer, less accident prone
Rethinking the quantum chip
When does waiting stop being worth it?
Nationwide study looks at when and where EV owners use public charging stations
A new discovery about the source of the vast energy in cosmic rays
Cancer ‘fingerprint’ can improve early detection
Rethinking the brain pacemaker: How better materials can improve signals
Allostatic load, educational attainment, and risk of cancer mortality among us men
Flaw in computer memory leads to global security fixes
[Press-News.org] Scientists discover gene responsible for rare, inherited eye diseaseNIH-supported findings pave the way for genetic testing, clinical trials, and therapy development