Findings could lead to clinical laboratory test that can both track the disease’s progress and differentiate it from other forms of dementia
Another research study is underway with hopes of developing a new clinical laboratory blood test to aid in the diagnoses of Alzheimer’s disease and help physicians determine the best course of treatment.
Researchers at the Washington University School of Medicine (WashU Medicine) in St. Louis and Lund University in Sweden have developed a test that focuses on the presence of a protein called MTBR-tau243, a potential biomarker for Alzheimer’s. This protein is correlated to the toxic accumulation of tau aggregates in the brain and the severity of the disease, according to a WashU new release.
Cognitive tests and brain imaging are also used to diagnose the condition. However, existing tests cannot establish how far the illness has progressed. Alzheimer’s therapies are most effective during early stages, so determining the disease’s progression could provide insights doctors need to devise the most effective treatment protocols.
Washington University’s new blood test that identifies MTBR-tau243 protein could lead to new biomarkers as well as identifying how far the disease has progressed.
“This blood test clearly identifies Alzheimer’s tau tangles [aka, neurofibrillary tangles], which is our best biomarker measure of Alzheimer’s symptoms and dementia,” said co-senior author Randall J. Bateman, MD, professor of neurology at WashU Medicine in the WashU news release.
“In clinical practice right now, we don’t have easy or accessible measures of Alzheimer’s tangles and dementia, and so a tangle blood test like this can provide a much better indication if the symptoms are due to Alzheimer’s and may also help doctors decide which treatments are best for their patients,” said co-senior author Randall J. Bateman, MD, professor of neurology at WashU Medicine in a news release. (Photo copyright: Washington University.)
Distinguishing between Alzheimer’s and Other Forms of Dementia
The WashU scientists tested the study participants in three main stages of Alzheimer’s disease:
Pre-symptomatic.
Early stage with mild cognitive impairment.
Late symptomatic where patients have been diagnosed with dementia.
The study included 108 volunteers from WashU Medicine’s Charles F. and Joanne Knight Alzheimer Disease Research Center and a subset of 55 people from the Swedish BioFINDER-2 study, which aims to discover key mechanisms in neurodegenerative disorders. The scientists validated their results in an independent dataset involving 739 other people in the BioFINDER-2 database. The patient information used for the study represented patients from all stages of the disease.
Alzheimer’s disease involves an accumulation of amyloid into plaques in the brain, which turn into tangles of tau proteins. When these tau tangles become detectable, cognitive symptoms begin to occur and exacerbate as the tangles spread. WashU’s new blood test can detect MTBR-tau243 levels in the brain with 92% accuracy. The researchers also found that MTBR-tau243 levels were significantly higher for patients in the mild cognitive stage of the disease and up to 200 times higher for patients in the late symptomatic stage.
“MTBR-tau243 is a chipped (off) piece of the protein in Alzheimer’s tau tangles,” Bateman told Medical News Today. “The blood test measures this piece of tau tangles in the blood as a measure of how many tangles are in the brain.”
The researchers also found that MTBR-tau243 levels were normal in patients with cognitive symptoms attributed to diseases other than Alzheimer’s, suggesting that the test can distinguish Alzheimer’s dementia from other forms of dementia.
“We’re about to enter the era of personalized medicine for Alzheimer’s disease,” said Kanta Horie, PhD, voluntary research associate professor of neurology at WashU Medicine, co-first and co-corresponding author of the study, in the WashU news release.
More Studies Needed
According to the Centers for Disease Control and Prevention (CDC), Alzheimer’s is the seventh leading causes of death in the US. It accounted for more than 120,000 deaths in 2022, the most recent year for available data. With the ebbing of COVID-19, which was ranked number four in 2022, Alzheimer’s is assumed to be higher in ranking for more recent years.
Washington University’s new blood test for Alzheimer’s may one day enable earlier detection of the disease, earlier intervention, and slowing of its advancement. However, more research and trials are needed into the theory behind this study.
“The initial study needs to be replicated in larger and more diverse populations to confirm its accuracy and reliability across different demographics, ethnicities, and stages of the disease,” Manisha Parulekar, MD, director of the Division of Geriatrics at Hackensack University Medical Center, told Medical News Today. “This includes testing individuals with other neurological conditions to ensure specificity. Clear and standardized protocols for blood collection, processing, and analysis must be established to ensure consistent and reproducible results across different laboratories and healthcare settings.”
With public trust in healthcare organizations dropping, clinical laboratories worldwide must work doubly hard to provide competent, secure services to their patients
Is the UK’s National Health Service hurting people? About 10% of NHS patients said yes in a recent survey conducted by the London School of Hygiene and Tropical Medicine (LSHTM) and the University of Oxford. And those findings are a public stain on the physicians and clinical laboratories in an already strained healthcare system.
Of the 10,000 people interviewed, nearly 1,000 “reported they had experienced harm caused by the NHS in the previous three years. Of those, 6.2% cited their treatment or care and 3.5% blamed the harm on a lack of access to NHS services,” according to an LSHTM news release.
While the definition of “hurt” within the confines of the survey wasn’t specified, what is clear is that public trust in the UK’s healthcare system is decreasing. Fallout from the survey may affect the public’s trust in clinical labs that are facing unfavorable feedback from slow test result delivery times or rare instances of incorrect results.
“I’ve been studying patient safety and working in and with the NHS, including as a GP, for many years. It’s a complex challenge to pinpoint the cause of the problem and solve it,” said study author Helen Hogan, PhD, MBBS, a general practitioner and associate professor in the department of Health Services Research and Policy at LSHTM, in the news release.
“These findings indicate that healthcare harm affects a considerable number of the general public. It shows that there is still some way to go to improve safety across the NHS,” said study author Helen Hogan, PhD, MBBS, general practitioner and associate professor in the department of Health Services Research and Policy at LSHTM, in a news release. (Photo copyright: London School of Hygiene and Tropical Medicine.)
Of the 9.7% that reported NHS harm, 6.2% claimed it was from the actual treatment or care given and 3.5% from the access to care. Severity ranged from 37.6% reporting moderate impact to 44.8% reporting severe impact, and the majority claimed the impact occurred at hospitals, the authors wrote in BMJ Quality and Safety.
Women led the respondents in reports of harm, and more severe harm or higher rates of harm were reported from those in disadvantaged groups or lower social grades and those with disabilities or long-term illness, according to the researchers.
Though 60% got professional support for their troubles, including 11.6% contacting the NHS’ Patient Advice and Liaison Service (PALS), only 17% made a formal complaint. A small percentage, 2.5%, sought financial compensation, the survey showed.
Poor Patient Service Experience
Further, the patients reported poor results when they sought relief from the harm. Some (44.4%) desired treatment or care to help with the harm, while others (34.8%) wanted an explanation for the harm. Two-thirds said their incidents were not dealt with well and only half reported a positive PALS experience, the survey noted.
“Those harmed by healthcare are looking for a compassionate and caring response from services. What they really want is to be listened to, to have their harm acknowledged, and get an explanation,” noted Michele Peters, PhD, fellow survey author and associate professor at Oxford Population Health, University of Oxford, in the LSHTM news release.
Loss in Confidence
To make matters worse for the UK’s publicly run healthcare system, an unrelated patient satisfaction survey published contemporaneously found that NHS satisfaction hit record lows. According to The Guardian, the annual patient survey found a 24% decrease in satisfaction among adults in Britain in how NHS is run (now at a mere 21%). Dissatisfaction rose from 52% to 59% in the past year.
General practice, accident and emergency, and dental care were the areas of biggest disappointment, the study revealed.
“It is by far the most dramatic loss of confidence in how the NHS runs that we have seen in 40 years of this survey,” said Mark Dayan, a policy analyst at the Nuffield Trust who was engaged by The King’s Fund to analyze the survey data.
“There is a need to better understand the patient perspective following harm and for further consideration of what a person-centered approach to resolution and recovery might look like,” the researchers noted in BMJ Quality and Safety.
These types of findings can contribute to public mistrust of healthcare organizations worldwide, including clinical laboratories and pathology groups. It’s worth watching how the NHS resolves these issues.
NPR reports that the shamed Theranos founder/CEO is providing advice to Evans, but the startup denies that claim
Prison bars can’t block Elizabeth Holmes from finding her way back into the news spotlight. The disgraced founder and former CEO of Theranos is reportedly advising her partner Billy Evans on his new artificial intelligence (AI) diagnostic startup company, named Haemanthus after the blood lily.
According to sources who spoke with NPR, Evans’ new company Haemanthus, Inc. is developing a blood testing device and has patented a process that uses Raman spectroscopy, which, according to NPR, “has been shown to help diagnose ALS, also called Lou Gehrig’s disease, as well as some forms of cancer. It has also been used to discover improvised explosive devices on battlefields.”
Evans has already raised millions of dollars for the fledgling startup, NPR reported, adding that a source claimed finances for the company have come from “mostly friends, family, and other supporters so far.”
According to Newsweek, Evans’ goal is to raise $50 million toward the development of a “medical testing product.”
The company will “do medical tests using bodily fluids,” Newsweek reported, adding, “An image of the alleged device published by The New York Times is eerily similar to Theranos’ ‘Edison’ testing machine.”
Elizabeth Holmes is currently housed in a federal facility in Bryan, Texas. Sources told NPR that she has been “providing advice” to Billy Evans, her partner, on his new AI/medical testing company Haemanthus, which denied those claims stating on X that Holmes “has no role, now or future.” (Photo copyright: Wikimedia Commons.)
Haemanthus Denies Holmes’ Involvement
Holmes has reportedly been providing insight to Evans throughout her prison term, though her role with his budding company is unclear, NPR noted.
As previously reported by Dark Daily, Holmes is “barred from receiving payments from federal health programs for services or products, which significantly restricts her ability to work in the healthcare sector.”
Haemanthus denied Holmes’ involvement with the company, claiming that she “has no formal role” and that “Haemanthus is not Theranos 2.0,” Fortune reported.
Previous lengthy posts by Haemanthus on social media platform X fully denied any involvement with Holmes but have since been deleted. The company now uses their platform to curtly retort the significance of Holmes’ involvement, leaning on their advancements and high standards. “Skepticism is rational. We must clear a higher bar,” they said. “When The NY Times contacted us, we invited them to see our lab, tech, and team. They declined. The headline was already written. Our reality inconvenient.”
Further posts on X showcase Haemanthus’ desire to have the same groundbreaking prowess Holmes clung to throughout her Theranos venture. The company claims to have developed “the world’s first AI-native sensors for health,” adding, “Our technology captures thousands of biomarkers simultaneously.”
And the Holmes Saga Continues
Haemanthus is comprised of about a dozen people, including individuals who “worked with Evans at Luminar Technologies, which develops sensor technology for autonomous vehicles, according to the company’s patent and Delaware incorporation paperwork,” NPR reported.
Holmes is currently serving an 11-year federal prison sentence for her role in fraud involving Silicon Valley startup Theranos, which boasted clinical laboratory blood-test breakthroughs that turned out to be riddled with faulty equipment and fraudulent results.
Though whistleblowers brought Holmes scheme to the light, she has never admitted wrongdoing for her actions and continues to claim her innocence. In May, the Ninth Circuit of Appeals denied her request for a rehearing of her case.
Findings may lead to new clinical laboratory testing and treatments for Parkinson’s patients
Gut bacteria have repeatedly been proven to perform critical roles in the development of certain diseases. And many clinical laboratory tests use human microbiota as biomarkers.
Now, researchers at Nagoya University Graduate School of Medicine in Japan have discovered a link between microbes in the gut and the brain. The connection may play a part in the development of Parkinson’s disease, according to a Nagoya University news release.
The researchers found that a reduction in the genes responsible for synthesizing riboflavin (vitamin B2) and biotin (vitamin B7) may increase the likelihood of developing Parkinson’s.
They also determined that the lack of these genes may lessen the integrity of the intestinal barrier that prevents toxins from entering the bloodstream causing the inflammation often seen in Parkinson’s patients.
“Supplementation therapy targeting riboflavin and biotin holds promise as a potential therapeutic avenue for alleviating Parkinson’s symptoms and slowing disease progression,” said lead researcher Hiroshi Nishiwaki, PhD, Division of Neurogenetics, Center for Neurological Diseases and Cancer, Nagoya University Graduate School of Medicine, in a news release. (Photo copyright: Nagoya University.)
Key Deficiencies in Parkinson’s Patients
According to the Parkinson’s Foundation, nearly one million people in the US are living with Parkinson’s and that number is expected to increase to 1.2 million by the year 2030. Approximately 90,000 new cases of Parkinson’s are diagnosed in the US each year, and more than 10 million people are living with the disease worldwide.
To perform their research, the Nagoya University team analyzed stool samples from 94 Parkinson’s patients from Japan, the US, Germany, China, and Taiwan. They also included 73 relatively healthy controls from Japan. They then used shotgun sequencing (a laboratory technique for determining the DNA sequence of an organism’s genome) to gain a better understanding of the microbial community and genetic makeup of each sample.
The scientists discovered a decrease in B2 and B7 vitamins in patients diagnosed with Parkinson’s. B vitamins promote the production and functions of short-chain fatty acids (SCFA) and polyamines.
“Supplementation of riboflavin and/or biotin is likely to be beneficial in a subset of Parkinson’s disease patients, in which gut dysbiosis plays pivotal roles,” the authors wrote in NPJ-Parkinson’s Disease.
The examination of fecal metabolites in Parkinson’s patients revealed a reduction in both components.
“Deficiencies in polyamines and SCFAs could lead to thinning of the intestinal mucus layer, increasing intestinal permeability, both of which have been observed in Parkinson’s,” said Hiroshi Nishiwaki, PhD, a professor at Nagoya University Graduate School of Medicine and a lead researcher for the study, in the news release.
“This higher permeability exposes nerves to toxins, contributing to abnormal aggregation of alpha-synuclein, activating the immune cells in the brain, and leading to long-term inflammation,” he added.
The team surmises that the weakened protective layer in the gut exposes the intestinal nervous system to more of the toxins people experience in everyday life, such as chemicals, pesticides, and herbicides. These types of toxins lead to the overproduction of alpha-synuclein fibrils. These molecules are aggregates of the α-synuclein protein that form into long, thread-like structures which are primarily found in the brains of individuals with neurodegenerative diseases like Parkinson’s.
Alpha-synuclein fibrils amass in dopamine-producing cells in the brain and increase the type of inflammation that leads to the debilitating motor skills and dementia symptoms of Parkinson’s.
Precision Medicine Analysis Suggested
Due to their research, the team proposes that high doses of vitamin B may help reduce the damage of toxins on the gut microbiome, help protect against neurodegenerative diseases like Parkinson’s, and aid in the creation of personalized therapy plans for patients.
“We could perform gut microbiota analysis on patients or conduct fecal metabolite analysis,” Nishiwaki noted. “Using these findings, we could identify individuals with specific deficiencies and administer oral riboflavin and biotin supplements to those with decreased levels, potentially creating an effective treatment.”
The results of the Nagoya University study illustrate the importance of a healthy gut microbiome in the prevention of disease. Altering the bacterial level in the gut may enable doctors to stave off the progression of neurodegenerative illnesses like Parkinson’s disease.
Discovery could lead to new clinical laboratory testing for cancer screening in new mothers
Any clinical laboratory test that returns unexpected results is worth looking into more deeply. Such was the case with a recent study conducted by the National Institutes of Health (NIH), which investigated cases of pregnant women who received “unusual” results to prenatal lab tests conducted at a dozen labs in North America.
Following cancer screening protocols that included rapid whole-body magnetic resonance imaging, NIH scientists discovered “previously undetected cancers in 48.6% of pregnant people who had abnormal results for prenatal cell-free DNA (cfDNA) testing used to screen for chromosomal disorders in the fetus,” according to an NIH news release.
“They looked like healthy young women, and they reported themselves as being healthy,” Diana Bianchi, MD, head of the Prenatal Genomics and Therapy Section for the Medical Genetics Branch at the NIH’s National Human Genetics Research Institute, and senior author of the government study, told the Associated Press (AP).
While cfDNA tests are not diagnostic, pathologists and clinical laboratory managers involved in genetic testing are likely familiar with them. The blood tests are used by expectant mothers to assess risk of a fetus with an abnormal number of chromosomes that could suggest disorders such as Down Syndrome, according to ARUP Laboratories.
Unexpected results from tests draw attention. This one seems to have a chance to get more traction with labs because the results point to a prenatal test having some success predicting cancer, even if incidentally.
“[The study participants] and their care providers need to take the results seriously and have additional testing because in that population there is a 48% risk of cancer,” Diana Bianchi, MD, senior author of the NIH study, told the AP. (Photo copyright: National Institutes of Health.)
Cancer Found in about Half of Those with Abnormal cfDNA
The NIH researchers started a long-term study, called IDENTIFY, to learn more about abnormal cfDNA results that could suggest cancer. Study participants must be:
Pregnant or postpartum with no known cancer.
Recipients of “unusual clinical cfDNA-sequencing results or results that are non-reportable (fetal aneuploidy status could not be assessed) from one of 12 different commercial laboratories,” they wrote in NEJM.
For the study’s initial cohort of 107 participants, researchers repeated cfDNA sequencing testing and coordinated standard medical diagnostic tests (such as Pap smears) and whole-body magnetic resonance imaging.
52 women (48.6%) were found to have “hidden cancers.”
32 had blood cancers.
20 had solid tumors in the breast, bile duct, colon, pancreas, lung, kidney, bone, and adrenal gland.
13 of the 20 with solid tumors were able to access “potentially curative treatments.”
55 women did not have cancer and may have obtained an unreliable cfDNA result.
“In this study, 48.6% of participants who received unusual or nonreportable clinical cfDNA-sequencing results had an occult cancer (cancer of unknown primary).
“Further study of DNA-sequencing patterns that are suggestive of occult cancer during prenatal screening is warranted,” the researchers wrote in NEJM.
Follow-Up Testing Needed
Cancers found in the study participants “included colorectal, breast, lung and pancreatic cancers, as well as lymphoma, cholangiocarcinoma and renal carcinoma. The screening test analyzes placental DNA fragments circulating in the maternal bloodstream to identify an extra chromosome or to determine the baby’s sex,” according to the NIH news release.
Bianchi told AP the study results also pointed to a “very chaotic” pattern in DNA-sequencing of women with cancer, and that more research is needed to find out who should be screened for cancer.
Clinical laboratories and pathologists who analyze cfDNA tests could take a leadership role in assessing current standards for the tests, determining how suspicious results are reported, and suggesting needed changes.
