Nav: Home

Disease that causes blindness in children tied to new gene

June 09, 2016

Northwestern Medicine and University of Wisconsin-Madison (UW) scientists have identified a gene that causes severe glaucoma in children. The finding, published in The Journal of Clinical Investigation, validates a similar discovery made by the scientists in mice two years ago and suggests a target for future therapies to treat the devastating eye disease that currently has no cure.

"This work shows us how a genetic mutation causes a severe form of glaucoma called primary congenital glaucoma, which afflicts a significant portion of children enrolled in institutions for the blind worldwide," said principal investigator Dr. Susan Quaggin, chief of nephrology and hypertension at Northwestern University Feinberg School of Medicine and Northwestern Memorial Hospital.

The gene, TEK, is involved in the development of a vessel in the eye called Schlemm's canal, which drains fluid from the anterior portion of the eye. In glaucoma, this vessel can be defective or missing, creating pressure buildup that can damage the optic nerve and cause vision loss. In previous research, Quaggin's lab showed that deleting the gene in mouse models led to glaucoma, but the scientists didn't know how mutations impairing the gene affected humans.

After publishing that research, Quaggin met Dr. Terri Young, a pediatric ophthalmologist and chair of Opthalmology at the UW. Young had identified mutations in TEK in some of her patients, but didn't know the significance.

"It was more than coincidental," Quaggin said. "Our meeting led to collaborations with ophthalmologists and geneticists from around the world who identified more mutations in this gene in children with this form of glaucoma. It was one of those eureka moments that sometimes happens in science."

Altogether, the team found TEK mutations in 10 unrelated families with children who have primary congenital glaucoma. All of these children did not have mutations in other genes known to cause glaucoma.

The scientists then demonstrated that the TEK mutations identified in children impair the vascular signaling pathway important in Schlemm's canal formation -- the same way they do in mice. Findings made in animal models do not always translate to patients, but it appears that this important eye vessel functions very similarly in mice and humans.

"We don't know how other genes associated with glaucoma cause this disease," Quaggin said. "With TEK, we know exactly what's going wrong, which means we've identified a pathway that could be a great new therapeutic target for severe glaucoma and even more common forms of the disease."

In ongoing research, Quaggin's group is developing an eye drop that repairs the TEK pathway to fix the faulty vessel. The scientists are also exploring whether TEK pathway mutations play a role in adult-onset glaucoma.
-end-
Quaggin is also the Charles Horace Mayo Professor of Medicine and director of the Feinberg Cardiovascular Research Institute (FCVRI).

Additional Feinberg study authors include first author Dr. Tomokazu Souma, Benjamin Thomson, Shinji Yamaguchi, Liang Feng, Xiaorong Liu and Dr. Jing Jin.

This study was funded by National Institutes of Health (NIH) grants R01 HL124120, R01 EY014685 and EY11721, the Research to Prevent Blindness Inc. Lew R. Wasserman Award, the Duke-National University of Singapore Core Grant, the University of Wisconsin Centennial Scholars Award and NIH Career Development Award K12 1K23EY020554. This work was also supported by grants from the March of Dimes Foundation, Howard Hughes Medical Center, Ophthalmic Research Institute of Australia, Channel Seven Children's Research Foundation, Department of Innovation, Industry, Science and Research, and the National Health and Medical Research Council of Australia.

Northwestern University

Related Glaucoma Articles:

AI-supported test for very early signs of glaucoma progression
A new test can detect glaucoma progression 18 months earlier than the current gold standard method, according to results from a UCL-sponsored clinical trial.
New method gives glaucoma researchers control over eye pressure
Neuroscientists have developed a new method that permits continuous regulation of eye pressure without damage, becoming the first to definitively prove pressure in the eye is sufficient to cause and explain glaucoma.
Glaucoma care in prison inmates
Data from 82 prison inmates treated in a glaucoma clinic at an academic hospital were used in this observational study to report on how treatment and follow-up, including medication adherence, were are managed.
New glaucoma test to help prevent blindness
Researchers have identified 107 genes that increase a person's risk of developing the eye disease glaucoma, and now developed a genetic test to detect those at risk of going blind from it.
Air pollution linked to higher glaucoma risk
Living in a more polluted area is associated with a greater likelihood of having glaucoma, a debilitating eye condition that can cause blindness, finds a new UCL-led study in the UK.
Long-term statin use associated with lower glaucoma risk
A new study brings the connection between statin use and risk of glaucoma into sharper focus.
Health burden of glaucoma has risen worldwide
The health burden of glaucoma has continuously increased around the globe in the past 25 years, according to an Acta Opthalmologica study.
UAlberta scientists first to pinpoint a cause of pigmentary glaucoma
An international team of researchers has identified a gene responsible for the onset of pigmentary glaucoma, which may lead to new therapies for the condition.
Using EHR-linked medication reminders for glaucoma patients
Mobile device reminders have been associated with better medication adherence and linking reminders to patient electronic health records (EHRs) could potentially allow some oversight by clinicians.
Traditional glaucoma test can miss severity of disease
The most common test for glaucoma can underestimate the severity of the condition by not detecting the presence of central vision loss, also known as macular degeneration, according to a new Columbia University study.
More Glaucoma News and Glaucoma Current Events

Trending Science News

Current Coronavirus (COVID-19) News

Top Science Podcasts

We have hand picked the top science podcasts of 2020.
Now Playing: TED Radio Hour

Our Relationship With Water
We need water to live. But with rising seas and so many lacking clean water – water is in crisis and so are we. This hour, TED speakers explore ideas around restoring our relationship with water. Guests on the show include legal scholar Kelsey Leonard, artist LaToya Ruby Frazier, and community organizer Colette Pichon Battle.
Now Playing: Science for the People

#569 Facing Fear
What do you fear? I mean really fear? Well, ok, maybe right now that's tough. We're living in a new age and definition of fear. But what do we do about it? Eva Holland has faced her fears, including trauma and phobia. She lived to tell the tale and write a book: "Nerve: Adventures in the Science of Fear".
Now Playing: Radiolab

Uncounted
First things first: our very own Latif Nasser has an exciting new show on Netflix. He talks to Jad about the hidden forces of the world that connect us all. Then, with an eye on the upcoming election, we take a look back: at two pieces from More Perfect Season 3 about Constitutional amendments that determine who gets to vote. Former Radiolab producer Julia Longoria takes us to Washington, D.C. The capital is at the heart of our democracy, but it's not a state, and it wasn't until the 23rd Amendment that its people got the right to vote for president. But that still left DC without full representation in Congress; D.C. sends a "non-voting delegate" to the House. Julia profiles that delegate, Congresswoman Eleanor Holmes Norton, and her unique approach to fighting for power in a virtually powerless role. Second, Radiolab producer Sarah Qari looks at a current fight to lower the US voting age to 16 that harkens back to the fight for the 26th Amendment in the 1960s. Eighteen-year-olds at the time argued that if they were old enough to be drafted to fight in the War, they were old enough to have a voice in our democracy. But what about today, when even younger Americans are finding themselves at the center of national political debates? Does it mean we should lower the voting age even further? This episode was reported and produced by Julia Longoria and Sarah Qari. Check out Latif Nasser's new Netflix show Connected here. Support Radiolab today at Radiolab.org/donate.