A blood test to diagnose ALS.

A blood test to diagnose amyotrophic lateral sclerosis (ALS) could be widely available within two years.

Currently, ALS is diagnosed through a clinical examination by a neurologist but distinguishing it from other neurological diseases requires tracking symptom progression.

 This is problematic, as the average survival time in ALS is approximately three years, meaning many patients deteriorate significantly before receiving a definitive diagnosis.

Initial misdiagnosis rates range as high as 68%, delaying treatment and causing patients to be passed between specialists, increasing anxiety, unnecessary interventions, and costs.

A simple blood test for ALS would be a game-changer. It would speed up diagnosis, reduce anxiety, lower costs, and support the development of new drugs. Given the high misdiagnosis rate, a negative result would also be highly valuable.

Extracellular vesicles are nano-sized particles that circulate in the blood, are secreted by all cells, an contain microRNA. 

Researchers at the Brain Chemistry Labs in Jackson, Wyoming, reported today in Brain Communications that they have identified an ALS-specific biomarker, an “ALS fingerprint,” in the blood. The biomarker of eight microRNAs (miRNAs) can be detected via a simple blood draw.

Using next-generation sequencing and real-time PCR, the team analyzed blood samples from patients with ALS, Primary Lateral Sclerosis (PLS), Parkinson’s disease (PD), and healthy individuals.

The eight microRNA ALS fingerprint accurately detects ALS with as high as 98% accuracy and can separate ALS from PLS and PD.

“Faster diagnoses will allow for earlier treatment, which will improve patient outcomes,” says Sandra Banack, lead author of the study.

To confirm its reliability, the biomarker was tested across four different patient groups, in two labs, with various technicians and collection methods. The ALS fingerprint consistently produced reliable results.

Researchers believe this blood test could assist neurologists in diagnosing ALS and complement current clinical assessments.

Dr. Paul Alan Cox, Executive Director of Brain Chemistry Labs, hopes to secure a diagnostic company partnership and make this test widely available to neurologists within 18 to 24 months.

————

Brain Chemistry Labs is a 501(c)(3) not-for-profit organization in Jackson, Wyoming, that seeks to discover new ways to prevent, diagnose and treat ALS, Alzheimer’s, Parkinson’s and other serious brain diseases.

The Brain Communications paper, “A microRNA diagnostic biomarker for amyotrophic lateral sclerosis” (DOI 10.1093/braincomms/fcae268) can be accessed here.

Neurotoxin BMAA found in dust from Great Salt Lake.

In a startling discovery, researchers have identified a chronic neurotoxin known as BMAA in dust particles from the Great Salt Lake's dried lakebed. This toxin, linked to neurodegenerative illnesses, has become a significant health concern due to its presence in windblown dust that reaches populous metropolitan areas along the Wasatch Front.

Dr James Metcalf collects dust samples from the Great Salt Lake.

The dust, enriched with heavy metals and now with identified cyanobacteria and their toxins, poses an unsettling environmental health risk.

Studies have indicated that chronic dietary exposure to BMAA can trigger ALS-type neuropathology, with the neurotoxin now considered the most substantial environmental risk factor for developing Amyotrophic Lateral Sclerosis (ALS).

Although BMAA exposure also causes laboratory animals to form Alzheimer’s-type neuropathology, its role in Alzheimer’s, as well as Parkinson’s, is not fully understood.

However, its connection to ALS has been corroborated by two recent epidemiological studies, marking it as the most robust environmental link to the disease thus far.

Notably, Dartmouth researchers observed a higher risk of ALS in residents living near cyanobacteria-infested rivers and lakes in New Hampshire, underscoring the potential hazard of BMAA exposure.

Studies have indicated that chronic dietary exposure to BMAA can trigger ALS-type neuropathology, with the neurotoxin now considered the most substantial environmental risk factor for developing Amyotrophic Lateral Sclerosis (ALS).

Furthering the concern, the nonprofit Brain Chemistry Labs in Jackson Hole has been monitoring BMAA and other cyanotoxins in water bodies like Lake Okeechobee and collaborating with the Calusa Water Keeper to study airborne cyanobacterial toxins in Florida.

International research groups from Sweden, China, and France are also investigating chronic BMAA exposure as an ALS risk factor.

While ninety percent of ALS cases are sporadic and ten percent familial, the threat posed by the inhalation of BMAA-laced dust remains unclear.

What is clear, however, is the urgent need for comprehensive studies to determine the potential increase in ALS risk due to exposure to the Great Salt Lake dust.

The study was published this week in the journal Toxins.

Cyanotoxin Analysis of Air Samples from the Great Salt Lake. James S. Metcalf, Sandra Anne Banack and Paul Alan Cox. Toxins 2023, 15(11), 659; https://doi.org/10.3390/toxins15110659