Hair strand-based test shows promise for early ALS diagnosis
Hair strands have been used to identify dysregulation in amyotrophic lateral sclerosis, providing proof of concept for a non-invasive diagnostic tool.
A single strand of hair can be used as a biomarker to distinguish people with amyotrophic lateral sclerosis (ALS), according to a recent study conducted by researchers at the Icahn School of Medicine at Mount Sinai (NY, USA). By using laser ablation-inductively coupled plasma-mass spectrometry (LA-ICP-MS) to reveal unique elemental patterns, the researchers have demonstrated how this simple, non-invasive hair-based test could enhance ALS diagnosis.
It can take anywhere from 10 to 16 months from symptom onset for ALS to be diagnosed in the US. This progressive and fatal neurodegenerative disease has an average survival time of 3 years, with 5% of diagnosed patients living 20 years or longer. Early detection using fluid- and imaging-based biomarkers can prolong survival, but these procedures are expensive and invasive for patients, and are difficult to integrate into routine clinical care. Altered levels of essential and toxic elements have been implicated in ALS pathophysiology; however, little is known about the longitudinal biodynamic patterns of these elements in patients with ALS.
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In this new study, the team analyzed single hair strands from 391 individuals, which included 295 participants with confirmed ALS and 96 participants without ALS. Using advanced LA-ICP-MS, the researchers measured 17 elements. LA-ICP-MS uses a laser to vaporize tiny particles of solid samples, allowing the analysis of the elemental and isotopic compositions. Sophisticated information-theory tools were used to assess how the properties of the elements, which included copper, zinc, magnesium and lead, shifted over time in 2–4 hour intervals.
Upon analysis, the researchers found that patients with ALS showed significantly less coordinated, less similar, and less synchronized copper-based elemental networks compared to the control samples. These lower synchrony findings suggested systemic dysregulation in copper metabolism. The study adds to existing evidence suggesting copper’s role in ALS development and progression. Interestingly, the copper-zinc dynamics were significantly weaker in male patients, while female patients showed disruptions in chromium-nickel patterns.
“This is the first-ever study to use hair strands to identify elemental dysregulation in ALS,” said Vishal Midya, Assistant Professor of Environmental Medicine at the Icahn School of Medicine. “We found that patients with ALS had measurable differences in copper biodynamics that were not present in controls. These findings provide proof-of-concept that hair could serve as a simple and scalable diagnostic tool.”
Although the research hasn’t yet developed into a clinical diagnostic tool, “this approach has the potential to transform how we diagnose ALS, making it faster, easier, and more accessible for patients,” according to Manish Arora, Professor and Vice Chair of the Department of Environmental Medicine at the Icahn School of Medicine.
