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Intellectual disability disorder may be linked to a single, 'surprising' gene, research shows

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Intellectual disability disorder may be linked to a single, 'surprising' gene, research shows
  • Scientists have identified the genetic basis of a disorder causing intellectual disability, affecting approximately one in 20,000 young people.
  • The disorder is characterized by symptoms including short stature, small heads, seizures and low muscle mass.
  • The discovery is expected to facilitate the development of a new diagnostic method, providing answers to affected families.

Scientists have found the genetic root of a disorder that causes intellectual disability, which they estimate affects as many as one in 20,000 young people. And they hope their discovery leads to a new diagnosis that can provide answers to families.

Those with the condition have a constellation of issues, which also include short stature, small heads, seizures and low muscle mass, said the researchers, who published their findings in the journal Nature Medicine on Friday.

“We were struck by how common this disorder is” when compared with other rare diseases linked to a single gene, said Ernest Turro of the Icahn School of Medicine at Mount Sinai, senior author of the study.

CHILDREN WITH INHERITED DEAFNESS HEAR FOR FIRST TIME THROUGH EXPERIMENTAL GENE THERAPY

Syndromes like these can go unnoticed because the traits are sometimes so subtle doctors can’t recognize them by just looking at patients, said Dr. Charles Billington, a pediatric geneticist at the University of Minnesota who was not involved in the study.

This microscope image shows the 46 human chromosomes, blue, with telomeres appearing as white pinpoints. Scientists have found the genetic cause of a neurodevelopmental disorder that they estimate affects as many as one in 20,000 young people. (Hesed Padilla-Nash, Thomas Ried/National Cancer Institute/National Institutes of Health via AP, File)

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“So certainly this wasn’t something that we necessarily had a name for,” he said. “We’re learning more about these syndromes that we recognize only once we are seeing the cause.”

Researchers said the mutations occurred in a small “non-coding” gene, meaning it doesn’t provide instructions for making proteins. Until now, all but nine of the nearly 1,500 genes known to be linked to intellectual disability in general are protein-coding genes. Most large genetic studies so far have used a sequencing technology that typically leaves out genes that don’t code for proteins.

This study used more comprehensive “whole-genome” sequencing data from 77,539 people enrolled in the British 100,000 Genomes Project, including 5,529 with an intellectual disability. The rare mutations researchers found in the gene, called RNU4-2, were strongly associated with the potential to develop intellectual disability.

The finding “opens the door to diagnoses” for thousands of families, said study author Andrew Mumford, research director of the South West England NHS Genomic Medicine Service.

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More research is needed, Mumford said. How the mutation causes the disorder remains unclear and there is no treatment. But Billington said labs should be able to offer testing for this condition relatively quickly. And researchers said families should be able to find and support each other – and know they’re not alone.

“That can be incredibly comforting,” Mumford said.

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How a Vegan Diet Can Help You Lose Weight 8X Faster

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How a Vegan Diet Can Help You Lose Weight 8X Faster


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Cancer-linked herbicide in the spotlight after controversial order: ‘Toxic by design’

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Cancer-linked herbicide in the spotlight after controversial order: ‘Toxic by design’

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There has been a shake-up in the Make America Healthy Again movement regarding glyphosate, a widely used herbicide that has been the subject of significant controversy.

The debate follows an executive order signed by President Donald Trump that ensures an adequate supply of elemental phosphorus and glyphosate-based herbicides related to national defense.

MAHA supporters have previously pushed a pesticide-free agenda, warning of potential health harms caused by glyphosate.

Dr. Marc Siegel, Fox News senior medical analyst, said he believes there is sufficient evidence linking glyphosate to neurodegenerative diseases, including ALS, Parkinson’s and multiple sclerosis, to warrant limiting exposure.

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President Donald Trump signed an executive order that ensures an adequate supply of elemental phosphorus and glyphosate-based herbicides related to national defense. (AP Photo/Charlie Neibergall)

“With Parkinson’s, this association appears to be due to the gut, vagus nerve and brain axis, where the exposure affects the microbiome in the gut, which then ascends slowly up to the brain, causing the neurodegenerative disease years later,” Siegel told Fox News Digital.

“There is also a growing association being found between high-dose glyphosate or occupational exposure and metabolic disorders, liver disease and some cancers, specifically lymphoma.”

He added, “Growing research backs this. I favor limiting it.”

“When we apply them across millions of acres and allow them into our food system, we put Americans at risk.”

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Studies have shown that glyphosate, which is used in products such as Roundup, owned by Monsanto, could raise cancer risk.

In one University of Washington study published in the journal Mutation Research, researchers found that exposure to it increased the risk of non-Hodgkin lymphoma by 41%.

The nonprofit Investigate Midwest, which analyzed data from both the U.S. Geological Survey and the National Cancer Institute, also recently found that pesticides may contribute to cancer rates.

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Among the top 500 counties for per-square-mile pesticide use, more than 60% had cancer rates above the national average of 460 cases per 100,000 people, according to the report.

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Investigate Midwest, which is based in Illinois, interviewed more than 100 farmers, environmentalists, lawmakers and scientists as part of a partnership with the Pulitzer Center’s StoryReach U.S. Fellowship.

Among the top 500 counties for per-square-mile pesticide use, more than 60% had cancer rates above the national average of 460 cases per 100,000 people, according to one study. (iStock)

Iowa, which used 53 million pounds of pesticides last year, holds the nation’s title for second-highest cancer rate.

Bill Billings, a resident of Red Oak, Iowa, was diagnosed with cancer in 2014. 

“The cancer specialist said, very directly, (my) cancer is a result of being exposed to chemicals,” Billings said in the report.

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Kelly Ryerson, founder of Glyphosate Facts and owner of the Instagram account @glyphosategirl, told Fox News Digital her journey researching the herbicide began with her own health struggles.

Ryerson, who is based in California, previously struggled with chronic illness and autoimmune issues, which she said improved when she stopped eating gluten. 

Iowa, which used 53 million pounds of pesticides last year, holds the nation’s title for second-highest cancer rate. (iStock)

After attending a medical conference at Columbia University’s Celiac Disease Center, Ryerson began to question modern farming practices rather than the gluten itself.

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“A lot of times, farmers are spraying Roundup on our grains right before harvest to facilitate an easier harvest,” she said. “After that easier harvest, because everything’s dry at the same time, those crops go directly to the mill and may end up in our food supply, at alarmingly high levels.”

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In 2015, the International Agency for Research on Cancer (IARC), part of the World Health Organization framework, classified glyphosate as “probably carcinogenic to humans.”

The classification was based on limited evidence of cancer in humans (notably non-Hodgkin lymphoma in some studies) and sufficient evidence in experimental animals.

“President Trump’s executive order reinforces the critical need for U.S. farmers to have access to essential, domestically produced crop protection tools, such as glyphosate,” a Monsanto spokesperson said. (Wolf von Dewitz/picture alliance via Getty Images)

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A spokesperson for Monsanto told Fox News Digital it will comply with Trump’s order to produce glyphosate and elemental phosphorus.

“President Trump’s executive order reinforces the critical need for U.S. farmers to have access to essential, domestically produced crop protection tools, such as glyphosate,” the spokesperson said.

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HHS Secretary Robert F. Kennedy Jr. has long been a vocal critic of Roundup, working with his legal team in 2018 to award $289 million to a man who alleged the weed killer caused his non-Hodgkin lymphoma, according to reports.

Following backlash to Trump’s executive order, Kennedy said he supports the order but acknowledged that “pesticides and herbicides are toxic by design, engineered to kill living organisms.”

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“When we apply them across millions of acres and allow them into our food system, we put Americans at risk,” he posted on X. “Chemical manufacturers have paid tens of billions of dollars to settle cancer claims linked to their products, and many agricultural communities report elevated cancer rates and chronic disease.”

Fox News Digital reached out to the White House for comment.

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Common nighttime noise exposure may trigger heart problems, study suggests

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Common nighttime noise exposure may trigger heart problems, study suggests

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Living near heavy traffic could negatively impact your heart health.

A European study, published in the journal Environmental Research, found that exposure to nighttime road traffic noise is linked to changes in the blood, leading to worsened cholesterol and cardiovascular risks.

The researchers considered data from the U.K. Biobank, Rotterdam Study, and Northern Finland Birth Cohort 1966, including more than 272,000 adults over the age of 30, according to a press release.

Nighttime road noise exposure was estimated at all participants’ homes based on national noise maps. Researchers also took blood samples to measure the participants’ metabolic biomarkers for disease, then mapped the link between nightly noise levels and existence of biomarkers.

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Exposure to loud noise was associated with increased concentrations of cholesterol-related biomarkers. (iStock)

The study found that people exposed to louder noise at night — especially sounds above 55 decibels — showed changes in 48 different substances in their blood. Twenty of these associations “remained robust” throughout all cohorts.

Exposure to loud noise was associated with increased concentrations of cholesterol-related biomarkers, especially LDL “bad” cholesterol, IDL (intermediate-density lipoprotein) and unsaturated fatty acids.

NEARLY 90% OF AMERICANS AT RISK OF SILENT DISEASE — HERE’S WHAT TO KNOW

As noise levels increased, starting at around 50 decibels, cholesterol markers rose steadily, the release stated.

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The authors concluded that this study “provides evidence that nighttime road traffic noise exposure from 50 dB upward is associated with alterations in blood cholesterol and lipid profiles in adults.”

Researchers noted a link between traffic noise and cardiometabolic disease. (iStock)

Study co-author Yiyan He, doctoral researcher at the University of Oulu in Finland, noted that in this type of research, small effect sizes are expected, and environmental exposures such as traffic noise are “typically modest.”

SIMPLE NIGHTLY HABIT LINKED TO HEALTHIER BLOOD PRESSURE, STUDY SUGGESTS 

“Despite this, we observed statistically robust and consistent associations across many biomarkers, especially those related to LDL and IDL lipoproteins,” she told Fox News Digital.

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MISSING SLEEP MAY TAKE A HIDDEN TOLL ON YOUR BRAIN AND LONGEVITY, RESEARCH REVEALS

“We also identified a clear exposure-response pattern starting at around 50 dB, suggesting that metabolic changes become more evident as noise levels increase.”

This aligns with public health guidance, as the World Health Organization recommends lower nighttime noise limits at around 40 to 45 dB, Yiyan He added.

“This finding may clarify the association between traffic noise and cardiometabolic diseases,” the researchers wrote. (iStock)

“The 55 dB level is often used as an interim benchmark associated with substantial noise annoyance and sleep disturbance,” she said. “In our study, we observed associations not only at 55 dB, but also indications of effects emerging at around 50 dB.”

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The strength and consistency of the cholesterol-related associations were surprising, as these changes are usually “subtle.”

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“Instead, we found consistent associations across multiple large European cohorts, which strengthens confidence that the findings may reflect real biological patterns,” Yiyan He went on. “We were also interested to see that effects were minimal below ~50 dB, suggesting a possible threshold-like pattern.”

HEART DISEASE THREAT PROJECTED TO CLIMB SHARPLY FOR KEY DEMOGRAPHIC

The researcher noted that these findings were consistent across genders, education levels and obesity status.

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The study was restricted to White Europeans, which posed a limitation. There was also a lack of information on the fasting status in the UK Biobank.

Changes in cholesterol levels were more severe than researchers expected. (iStock)

“Fasting can influence levels of certain metabolites, particularly fatty acids,” Yiyan He said. “However, based on UK Biobank documentation, fewer than 10% of participants were fasting for at least eight hours, and our main findings focused on cholesterol-related biomarkers, which are generally less sensitive to short-term fasting.”

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The researchers also lacked information on bedroom location, indoor noise exposure and time spent at home.

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“These factors may introduce non-differential exposure misclassification,” Yiyan He said. “Additionally, noise exposure estimates were based on participants’ temporary residential addresses at the time of blood sampling, without considering the duration of residence.”

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“Many of these limitations would tend to bias results toward the null, so the consistent associations we observed remain noteworthy.”

Experts recommend taking measures to limit traffic noise at night. (iStock)

Based on this latest research, Yiyan He noted that nighttime noise is a “health-relevant exposure,” not just “an annoyance.”

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“Our findings suggest that nighttime traffic noise may subtly but consistently affect metabolic health,” she said. “While the changes in cholesterol and lipid levels for any one individual are small, traffic noise affects a very large number of people, which means the potential public health impact could be substantial.”

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The researcher recommends taking measures like improving sound insulation, using noise-reducing strategies and placing bedrooms on the quieter side of the home when possible.

“Because sleep is a key pathway linking noise to health, protecting the nighttime sleep environment is especially important,” she added.

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