Health
In Alzheimer’s breakthrough, researchers identify ‘protective gene’ that delays disease in high-risk family
A significant Alzheimer’s study is shedding new light on a protective gene that appears to delay the disease in those destined to develop it.
Researchers from two Mass General Brigham hospitals — Mass Eye and Ear and Massachusetts General Hospital — have been studying a large extended family in Colombia with multiple members who have the Paisa mutation, which predicts an extremely high genetic risk of developing early-onset Alzheimer’s disease.
Most people with the Paisa variant develop mild cognitive impairment in their 40s, develop dementia in their 50s and die from complications of dementia in their 60s, according to a press release.
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Among more than 1,000 high-risk family members, 27 of them who have one copy of a rare gene variant — the APOE3 gene, known as Christchurch — reported a delayed onset of symptoms.
A significant Alzheimer’s study sheds new light on a protective gene that appears to delay the disease in those destined to develop it. (iStock)
On average, they developed signs of Alzheimer’s five years later than those who did not have the variant, the researchers found.
By comparison, the drugs currently available for Alzheimer’s slow the disease’s progression by only around six months.
The study findings, published Wednesday in The New England Journal of Medicine, could have important implications for drug development.
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This is a follow-up to a 2019 study in which a woman from the same family who had two copies of the protective APOE3 Christchurch variant did not experience any disease symptoms until her 70s — decades later than the average age of onset, 44.
Joseph F. Arboleda-Velasquez, M.D., PhD, an associate scientist at Mass Eye and Ear who worked on the study, is originally from Colombia, where he spent years studying that woman’s case as part of his medical training.
Imaging scans showed reduced signs of tau and amyloid plaques, the proteins that build up in the brains of Alzheimer’s patients. (iStock)
“It really took the world by storm, the Colombian woman who beat Alzheimer’s — it was an amazing discovery,” he told Fox News Digital.
“But also, we had to be very careful. Was it really true? Could it be reproduced? It would be amazing if we could develop treatments that replicate the effect of the Christchurch variant, but we didn’t have enough evidence.”
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“So, back then, we started this very extensive project of trying to find more individuals who also had Christchurch to see if they were also protected.”
In this latest study, researchers analyzed 1,077 descendants of the Colombian family, narrowing the focus to the 27 people who carried both the Paisa mutation and one copy of the protective Christchurch variant.
“This could really transform lives — not just of the individual, but at the population level.”
On average, these 27 family members began showing signs of cognitive impairment at age 52 — compared to age 47 for those without the Christchurch variant.
For two of the individuals, imaging scans showed reduced signs of tau and amyloid plaques, the proteins that build up in the brains of Alzheimer’s patients, the press release stated.
While the original woman might have been dismissed as a “one-time wonder,” said Arboleda-Velasquez, this new study provides more evidence that could help support building a drug development program.
A doctor points out evidence of Alzheimer’s disease on PET scans at the Center for Alzheimer Research and Treatment at Brigham And Women’s Hospital in Boston, Massachusetts. (REUTERS/Brian Snyder/File Photo)
“Now, instead of one person, we have 27 more men and women — some who work, some who are retired, some in rural areas, some in the city — who all have the Christchurch variant and are all protected,” he said.
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“And now we can move forward with trying to develop therapies that do exactly the same thing.”
He added, “This could really transform lives — not just of the individual, but at the population level.”
The study did have some limitations, the researchers acknowledged.
It analyzed a relatively small number of people carrying both the Paisa and Christchurch variants, all belonging to a single (albeit large) family.
Researchers from two Mass General Brigham hospitals — Mass Eye and Ear and Massachusetts General Hospital — led the new study. (iStock)
Additional studies including larger, more diverse groups are needed to confirm the variant’s protective effect and determine the targets of potential treatments, researchers said.
Some experimental therapies are already being developed, Arboleda-Velasquez noted.
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“A lot of people were very intrigued by the initial Christchurch finding [in 2019], and now this is different,” he said.
“This is a call to action — a call to make drugs that can leverage this discovery.”
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The American Cancer Society (ACS) has updated its guidelines for colorectal cancer screening.
The organization released the update in its flagship journal on Wednesday, noting that the new recommendations “re-affirm” that adults at average risk should be screened for colorectal cancer at age 45 and continue through 75, for those with a life expectancy greater than 10 years.
In addition to the standard colonoscopy, the ACS also recommends that patients receive a blood-based screening test in a doctor’s office, which is designed to detect tumor DNA in the blood.
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The ACS also suggested an at-home screening option that looks for hidden blood and molecular markers in stool samples.
These new guidelines reflect recent advancements in disease detection, as well as a “critical shift in public health strategy to expand screening options and lower barriers to access,” the ACS stated in a press release.
The ACS recommends blood-based testing and at-home stool sampling as options for colorectal cancer screening. (iStock)
Dr. Robert Smith, senior vice president of early cancer detection science at the American Cancer Society and senior author of the report, wrote in a statement that colorectal cancer should be emphasized as a “highly preventable disease as much as a treatable one.”
“By offering more screening tools in our guideline update, more eligible adults will be able to participate in lifesaving colorectal cancer testing, helping to close the screening gap and catch more cancers at an earlier, treatable stage,” he added.
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According to the ACS, colorectal screening “dramatically improves survival,” as studies show early-stage detection yields a five-year survival rate of more than 90% in the U.S.
About one in three American adults are eligible for colorectal cancer screening but have not been tested, although ACS research marks colorectal cancer as the top cancer killer of adults under 50.
Colorectal cancer is the top cancer killer of adults under the age of 50, according to the ACS. (iStock)
People at a high risk of colorectal cancer may need to begin screening before age 45 or be screened more often, the ACS added. Those over 85 years old should no longer be screened for colorectal cancer, per the guidelines.
Dr. William Dahut, chief scientific officer at the ACS, commented that “no matter which test you choose, what’s most important is to get screened, and that includes underserved, rural and minority populations.”
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These guideline changes follow a surge in colorectal cancer diagnoses in younger individuals. Recent ACS research revealed a 50% relative increase in diagnoses in adults aged 45 to 49 from 2021 to 2022.
Dr. Aparna Parikh, medical director of the Center for Young Adult Colorectal Cancer at the Mass General Cancer Center, who is not affiliated with the ACS, shared that experts don’t “entirely understand why” cases are on the rise.
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“But it seems to be an interplay of a person’s risk factors, overall makeup and early exposures,” she previously told Fox News Digital. “[Those] include dietary exposures, environmental exposures and possible antibiotic exposures, as well as lifestyle factors in the right host.”
Changes in bowel habits are the primary red flag that should raise the suspicion of colorectal cancer. (iStock)
Another recent ACS study found that drinking heavily and consistently over an adult’s lifetime could lead to a higher risk of colorectal cancer.
Other known risk factors include family history, obesity, smoking, a diet high in red and processed meats, inflammatory bowel disease, and a personal history or family history of polyps.
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While there may be no symptoms of colorectal cancer before diagnosis, especially in the early stages, certain symptoms should not be overlooked, experts say.
Dr. Eitan Friedman, PhD, an oncologist and founder of The Suzanne Levy-Gertner Oncogenetics Unit at the Sheba Medical Center in Israel, confirmed to Fox News Digital that changes in bowel habits are the primary red flag that should raise the suspicion of colorectal cancer.
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Other symptoms include fatigue as a result of anemia, stomach pain or abdominal discomfort, rectal bleeding or blood in the stool, weakness and unexplained weight loss.
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The sudden death of Kyle Busch has drawn attention to a rare but devastating medical progression: when pneumonia escalates into fatal sepsis.
An ER doctor spoke with Fox News Digital about how sepsis can trigger a rapid health decline.
“Sepsis is actually not a specific disease or diagnosis, but rather the syndrome that occurs when the body has certain abnormal findings and a presumed infection,” said Dr. Kenneth J. Perry, a South Carolina-based emergency medicine physician.
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The markers of sepsis include elevated white blood cell counts, a high or low temperature, and elevated heart and respiratory rates, according to Perry. Because of this, a patient with pneumonia is often already technically septic by definition.
In the wake of Kyle Busch’s sudden passing, there is a focus on the rapid decline from pneumonia to fatal sepsis. (Getty; iStock)
While many people assume a worsening infection means bacteria are multiplying uncontrollably, it often has more to do with the body’s internal environment.
“It is often not the bacteria itself that is causing the specific decline,” Perry said. “In most cases, it is a cascade of inflammatory processes that are set in motion by the infection.”
When this inflammation spirals out of control, the body moves from having a manageable infection into severe sepsis. This is when otherwise healthy people can rapidly deteriorate.
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“The concerning thing that can happen with any individual … is that sepsis can then lead to low blood pressure, worsening vital signs and organ damage,” Perry said.
“As multiple organs fail, it becomes very difficult for the medical team to treat and can sometimes lead ultimately to death.”
“The medical evaluation provided to the Busch Family concluded that severe pneumonia progressed into sepsis, resulting in rapid and overwhelming associated complications,” the family shared in a statement. (James Gilbert/Getty Images)
It is very unlikely to have pneumonia and not have any symptoms, according to Perry. Early signs can mimic a severe flu, including fevers, chills, a productive cough, and chest or back pain in cases where the lung is infected.
When sepsis begins to take hold, time becomes the most critical factor. “We have known for a number of years that early antibiotic therapy is beneficial in the treatment of sepsis,” Perry said.
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If you or a loved one are managing an infection at home, the doctor says the following red flags mean you should bypass the clinic and head straight to the emergency room.
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- Shortness of breath or difficulty breathing
- A racing heart rate or fever that continues to worsen even after starting treatment
- Severe chest pain associated with a productive cough
The slide into sepsis is, in most cases, a cascade of inflammatory processes that are set in motion by the infection, the doctor said. (iStock)
While cases like Busch’s are tragic, Perry stressed that this shouldn’t cause widespread panic. Most patients with pneumonia do very well with standard oral antibiotics.
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The NASCAR star’s rapid decline underscores the importance of medical vigilance and “having a primary care physician with whom you have a good relationship,” according to the ER doctor.
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“Monitoring symptoms while having easy access to primary care is a very beneficial and appropriate plan for most patients,” he added.
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