Health
Mutated DNA Restored to Normal in Gene Therapy Advance
Researchers have corrected a disease-causing gene mutation with a single infusion carrying a treatment that precisely targeted the errant gene.
This was the first time a mutated gene has been restored to normal.
The small study of nine patients announced Monday by the company Beam Therapeutics of Cambridge, Mass., involved fixing a spelling error involving the four base sequences — G, A, C and T — in DNA. The effect was to change an incorrect DNA letter to the right one. The result was a normal gene that functioned as it should, potentially halting liver and lung damage of patients with a rare disorder.
“This is the beginning of a new era of medicine,” said Dr. Kiran Musunuru, a gene therapy researcher at the University of Pennsylvania’s Perelman School of Medicine.
He added that the method offers the hope of treating other genetic diseases precisely by fixing mutations — an alternative to current gene therapies, which either add new genes to compensate for mutated ones, or slicing DNA to silence genes.
Dr. Musunuru is a co-founder and equity holder of Verve Therapeutics, a gene therapy company, and receives funding from Beam Therapeutics for research, but not for this study.
Dr. Richard P. Lifton, president of Rockefeller University and head of its Laboratory of Human Genetics and Genomics, said the sort of gene editing Beam did, rewriting genes with an infusion, “is a holy grail” that “has the promise for being a one-and-done kind of therapy.”
Dr. Lifton is a director of Roche Pharmaceuticals and its subsidiary Genentech.
Despite the study’s small size, he said the results are “a very impressive advance and very promising.”
The study involved patients who have alpha-1 antitrypsin deficiency, or AATD, a genetic disease that affects an estimated 100,000 Americans, mostly of European ancestry. That makes it as common as sickle cell in this country. It is progressive and incurable.
The alpha-1 antitrypsin protein is made in the liver and normally goes to the lungs and protects them from inflammation from inhaled irritants like smoke or dust. But in people with the disease, a single change in a DNA letter in the gene results in a misshapen and nonfunctional protein. The result is often emphysema or chronic obstructive pulmonary disease in unprotected lungs.
But many of the aberrant alpha-1 antitrypsin proteins never get to the lungs and instead build up in patients’ livers, often causing cirrhosis.
The gene editing was simple for patients. They sat in a chair for a couple of hours while lipid nanoparticles, like those used in Covid vaccines, were infused into their blood. The nanoparticles did not hold vaccines, though. Instead, they encased a microscopic gene editor. The lipid casing protected the editor on a journey to the liver.
When the nanoparticles reached the liver, the lipid layer peeled off, releasing the editor — a disabled CRISPR molecule that acted like a GPS for the genome and an enzyme to fix the mutation. The CRISPR molecule crawled along the patient’s DNA until it found the one incorrect letter that needed to be repaired among the three billion DNA letters in the genome. Then the editing enzyme replaced that letter with the correct one.
The study divided the patients into three groups and tested three different doses of the gene editor. Those who got the highest dose made enough normal alpha-1 antitrypsin to be in a range where no more damage should occur. There were no serious side effects, said John Evans, Beam’s chief executive officer.
Beam will now be offering the higher dose to the patients who got the lower doses in the company’s study. Beam will also study the treatment in more patients, and test an even higher dose of its gene editor.
“And then we immediately have to think about how we can get this approved,” Mr. Evans said.
Dr. Noel McElvaney, a professor at the Royal College of Surgeons in Ireland and an investigator in the Beam study, said there’s a real need for an effective treatment to halt the damage done by the mutated gene. He said he sees patients in their 30s and 40s with severe emphysema and “really bad liver disease.” And, he said, “by the time we see them there is already a significant amount of damage.”
For those suffering the worst effects of AATD, he said, the new gene therapy is “a major major breakthrough.”
“The big pro” of the new treatment, he said, is that “it theoretically cures the liver and lung disease in one go.”
Dr. McElvaney added, though, that “like all genetic interventions, we have to follow up for a long time to make sure it’s as good as we think it is.”
But patients now have renewed hope, said Dr. Andrew Wilson, scientific director of the Alpha-1 Foundation, an advocacy group.
“We have been dreaming of gene therapy as a treatment for this disease,” he said.
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Eating too much salt has long been linked to high blood pressure, but new research suggests it could trick the immune system into prematurely aging the blood vessels.
A preclinical study recently published in the Journal of the American Heart Association has identified a biological chain reaction that links a salty diet to cardiovascular decay.
Scientists at the University of South Alabama observed that mice on a high-salt diet experienced rapid deterioration in their blood vessel function.
HIGH SALT INTAKE LINKED TO FASTER MEMORY DECLINE IN ONE GROUP, STUDY FINDS
After just four weeks of high sodium intake, the small arteries responsible for regulating blood flow lost their ability to relax, according to a press release.
The team found that the cells lining these vessels had entered a state of cellular senescence, a form of premature cellular aging in which cells stop dividing and release a mix of inflammatory signals that can damage surrounding tissue.
Excess salt has long been linked to high blood pressure, but a new study goes deeper into its effects on the cardiovascular system. (iStock)
The researchers tried to replicate this damage by exposing blood vessel cells directly to salt in a laboratory dish, but the cells showed no harmful effects.
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This suggests that salt isn’t directly causing damage to the vascular lining but that the real culprit may be the body’s own defense mechanism, the researchers noted.
Excess salt may trigger the immune system to release a molecule called interleukin-16 (IL-16), which acts as a messenger that instructs blood vessel cells to grow old before their time, according to the study.
Excess salt may trigger the immune system to release a molecule called interleukin-16, which acts as a messenger that instructs blood vessel cells to grow old before their time, according to the study. (iStock)
Once these cells age, they fail to produce nitric oxide, the essential gas that tells arteries to dilate and stay flexible.
To test whether this process could be reversed, the team turned to a class of experimental drugs known as senolytics.
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Using a cancer medication called navitoclax, which selectively clears out aged and dysfunctional cells, the researchers were able to restore nearly normal blood vessel function in the salt-fed mice, the release stated.
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By removing the decaying cells created by the high-salt diet, the drug allowed the remaining healthy tissue to maintain its elasticity and respond correctly to blood flow demands.
Excess salt may trigger the immune system into stopping the cells from dividing, the study suggests. (iStock)
The study did have some limitations. The transition from mouse models to human treatment remains a significant hurdle, the team cautioned.
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Senolytic drugs like navitoclax are still being studied for safety, and the team emphasized that previous trials have shown mixed results regarding their impact on artery plaque.
Additionally, the researchers have not yet confirmed whether the same IL-16 pathway is the primary driver of vascular aging in humans.
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Eating a diet high in fruits and vegetables was found to have a surprising link to lung cancer among younger non-smokers, early research suggests.
The observational study, led by Jorge Nieva, M.D., of the USC Norris Comprehensive Cancer Center at Keck Medicine, was presented this month at the American Association for Cancer Research (AACR) annual meeting in San Diego. It has not yet been peer-reviewed.
Researchers looked at dietary, smoking and demographic data for 187 patients who were diagnosed with lung cancer at age 50 or younger.
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They found that among non-smokers, there was a link between healthier-than-average diets – rich in fruits, vegetables and whole grains – and the chance of lung cancer development.
Young lung cancer patients ate more servings of dark green vegetables, legumes and whole grains compared to the average U.S. adult, the researchers found.
Eating a diet high in fruits and vegetables was found to have a surprising link to lung cancer among younger non-smokers, early research suggests. (iStock)
The researchers hypothesized that pesticides applied to conventionally grown produce could be a possible factor in the disease association.
“Commercially produced (non-organic) fruits, vegetables and whole grains are more likely to be associated with a higher residue of pesticides than dairy, meat and many processed foods,” according to Nieva. He also noted that agricultural workers exposed to pesticides tend to have higher rates of lung cancer.
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“There is a large subset of lung cancer patients whose disease is not caused by smoking,” Nieva told Fox News Digital.
The disease is becoming more common in non-smokers 50 and younger, especially women – despite the fact that smoking rates have been falling for decades, the researcher noted.
The researchers hypothesized that pesticides applied to conventionally grown produce could be a possible factor in the disease association. (iStock)
“These patients tend to have eaten much healthier diets before their diagnosis than the average American,” he went on. “We need to support research into understanding why Americans – and women in particular – who no longer smoke very much are still having lung cancer,” he said.
DEATHS FROM ONE TYPE OF CANCER ARE SURGING AMONG YOUNGER ADULTS WITHOUT COLLEGE DEGREES
The study did have some limitations, Nieva acknowledged, primarily that it relied on survey data and was limited by the participants’ memories of their food intake.
“Also, the survey participants were self-selected, and this could have biased the findings,” he told Fox News Digital.
“There is a large subset of lung cancer patients whose disease is not caused by smoking.”
The researchers did not test specific foods for pesticides, relying instead on average pesticide levels for certain types of food. Looking ahead, they plan to test patients’ blood and urine samples to directly measure pesticide levels, Nieva said.
Although the study shows only an association and does not prove that pesticides caused lung cancer, Nieva recommends that people wash their produce before eating and choose organic foods whenever possible.
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“This work represents a critical step toward identifying modifiable environmental factors that may contribute to lung cancer in young adults,” said Nieva. “Our hope is that these insights can guide both public health recommendations and future investigation into lung cancer prevention.”
“It is possible that the increased lung cancer risk could be due to pesticide exposure in whole farmed foods, but is by no means certain,” a doctor said. (AP Photo/Charlie Neibergall)
Dr. Marc Siegel, Fox News senior medical analyst, said the study is “interesting,” but that it “raises far more questions than it answers.”
“It is a small study (around 150) and observational, so no proof,” the doctor, who was not involved in the research, told Fox News Digital.
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“It is possible that the increased lung cancer risk could be due to pesticide exposure in whole farmed foods, but it is by no means certain,” Siegel went on. “How much exposure is needed? How much of it gets into food and in which areas? This requires much further study.”
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Kayla Nichols, communications director for Pesticide Action & Agroecology Network, a distributed global network, said the organization agrees with the study’s conclusion that more research should be done on the rise in lung cancer, particularly in individuals eating diets higher in produce and fiber.
“There is a large subset of lung cancer patients whose disease is not caused by smoking,” the researcher told Fox News Digital. (iStock)
“There is a bounty of existing research that already links pesticide exposure to increased risk of multiple types of cancers,” Nichols, who was also not involved in the study, told Fox News Digital. She called for more research on chronic, low-level exposures to pesticides, as well as more effective policies to protect the public from pesticide residues on food.
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The study was supported by the National Institutes of Health and the National Cancer Institute, as well as industry partners including AstraZeneca and Genentech, among others.
Fox News Digital reached out to several pesticide companies and trade groups for comment.
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