Health
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)
“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.
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.
Health
Diabetes surge among Americans could be driven by ‘healthy’ breakfasts, doctor warns
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Americans consume foods every day that are marketed as “healthy,” when they could be quietly destroying their health, one doctor warns.
Dr. Mark Hyman, physician and co-founder of Function Health in California, says that much of America’s daily diet is filled with unhealthy ingredients.
“The amount of refined starches and sugars that are everywhere is just staggering to me, given what we know about how harmful they are,” he shared in an interview with Fox News Digital. “I don’t think people really understand.”
Hyman, author of the new book “Food Fix Uncensored,” said he’s “astounded” by what people are eating, especially for breakfast.
“People just eat sugar for breakfast,” he said. “They have muffins, they have bagels, they have croissants, they have sugar-sweetened coffees and teas.”
Dr. Mark Hyman is the author of the new book “Food Fix Uncensored.” (Function Health; Little, Brown Spark)
In addition to the traditionally sweet options for breakfast, some cereal brands and breakfast staples have adopted new “protein-packed” menu items and products, following health trends that encourage eating more protein.
“Highly processed food is not food.”
“Now, we’re seeing this halo of protein in certain things,” Hyman said, mentioning that many protein smoothies are “full of sugar.”
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The doctor also noted that some popular cereals are now marketed as having protein in them. “My joke is, if it has a health claim on the label, it’s definitely bad for you,” he said.
Instead of starting the day with a “quick fix” or processed food, Hyman suggests choosing whole sources of protein and fat for breakfast, adding that “if there’s a little carbohydrate in there, it’s fine.”
More products marketed as “high protein” have cropped up on supermarket shelves. (iStock)
For his own breakfast, Hyman said he has a protein shake with whey protein, avocado and frozen berries. Eggs and avocados are also a great protein-and-fat combo option, he added.
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“It’s not that complicated — people need to just think about their breakfast not being dessert,” he said. “No wonder we’re in this cycle of obesity and diabetes. One in three teenage kids now has type 2 diabetes or pre-diabetes. That’s just criminal.”
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Instead of counting calories and being in a caloric deficit as a way to lose weight and stay healthy, Hyman instead suggests focusing on how certain foods make you feel and how they impact your health.
“When you look at the way in which different types of calories affect your biology, you can just choose what you’re eating, and then you don’t have to worry about how much,” he told Fox News Digital.
In addition to the traditionally sweet options for breakfast, some cereal brands and breakfast staples have adopted new “protein-packed” menu items and products. (iStock)
“For example, if you eat a diet that doesn’t cause your insulin to spike — which is low in starch and sugar, higher in protein and fat — you won’t develop those swings in blood sugar, you won’t develop the spikes in insulin, you won’t deposit hungry fat … You will break that cycle.”
People are more likely to “self-regulate when they eat real food” instead of processed foods, which “bypasses the normal mechanisms of satiety, fullness and brain chemistry,” according to Hyman.
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“Ultraprocessed food and junk food or highly processed food is not food,” he said. “It doesn’t support the health and well-being of an organism. It doesn’t do that. It does the opposite.”
Health
Scientists make startling discovery when examining prostate cancer tissue
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Small fragments of plastic were found in the tumors of most prostate cancer patients, according to a new study from NYU Langone Health.
In past studies, microplastics have been found in almost every human organ and in bodily fluids, but their impact on human health still isn’t fully understood.
The researchers analyzed tissue samples from 10 patients with prostate cancer who underwent surgery to remove the entire organ.
Using visuals of both benign samples and tumor samples, as well as specialized equipment, the scientists identified plastic particles in 90% of the tumor samples and 70% of benign tissue samples, according to the study press release.
In past studies, microplastics were found in almost every single human organ along with bodily fluids, even the placenta. (iStock)
The cancerous tissue contained on average more than double the amount of plastic as healthy prostate tissue samples, the study found. This equates to about 40 micrograms of plastic per gram of tissue compared to 16 micrograms.
Researchers avoided contaminating the samples with other plastics by substituting standard tools with those made of aluminum, cotton and other non-plastic material, the release noted.
NIGHTLY BATHROOM HABIT WAS MISSED SIGN OF COMMON MEN’S CANCER: ‘I DIDN’T KNOW’
The scientists say this is the first direct evidence linking microplastics to prostate cancer.
“By uncovering yet another potential health concern posed by plastic, our findings highlight the need for stricter regulatory measures to limit the public’s exposure to these substances, which are everywhere in the environment,” said senior study author Vittorio Albergamo, assistant professor in the department of pediatrics at NYU Grossman School of Medicine, in the release.
Using visuals of both benign samples and tumor samples, as well as specialized equipment, the scientists identified plastic particles in 90% of the tumor samples and 70% of benign tissue samples. (iStock)
The study findings were presented during the American Society of Clinical Oncology’s Genitourinary Cancers Symposium in San Francisco on Feb. 26.
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“What is most striking is not that microplastics were detected, but that they were found embedded within tumor tissue itself,” Dr. David Sidransky, oncologist and medical advisor at SpotitEarly, a startup that offers an at-home breath-based test to detect early-stage cancer, told Fox News Digital.
“While complete avoidance is unrealistic, people can take practical steps to reduce exposure.”
“We already know microplastics are present in water, air, blood and even placental tissue. Their detection in prostate tumors suggests systemic distribution and long-term bioaccumulation,” added Maryland-based Sidransky, who was not involved in the study.
Study limitations
Albergamo cautioned that a larger sample is needed to confirm the findings. Additionally, Sidransky noted that the presence of microplastics alone does not prove they cause cancer.
“Tumors can act as ‘biologic sinks,’ meaning they may accumulate circulating particles simply because of altered vasculature and permeability,” he said.
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A key unanswered question, according to the doctor, is whether microplastics are biologically active in ways that “promote DNA damage, immune modulation or chronic inflammation within the prostate.”
About one in eight men in the U.S. will be diagnosed with prostate cancer at some point in their lifetime, according to the Centers for Disease Control and Prevention.
The most actionable step men can take is appropriate screening and early detection, according to doctors. (iStock)
For those concerned about microplastics, Sidransky offered some insights.
“I believe the appropriate response is curiosity, not panic, and a commitment to understand more,” he said.
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“While complete avoidance is unrealistic, people can take practical steps to reduce exposure, such as minimizing heating food in plastic containers, reducing bottled water consumption when possible, and favoring glass or stainless steel alternatives.”
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The most actionable step men can take, however, is getting appropriate screenings to help ensure early detection, according to the doctor. Screening discussions should be individualized based on age, family history and other risk factors.
Health
How a Vegan Diet Can Help You Lose Weight 8X Faster
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