Scientists at the Icahn School of Medicine at Mount Sinai have demonstrated, for the first time, that a single hair strand can exhibit unique elemental patterns capable of distinguishing people with amyotrophic lateral sclerosis (ALS) from healthy individuals. The findings, published in eBioMedicine, suggest that a simple, non-invasive test using hair could potentially expedite ALS diagnosis and enhance patient care.
eBioMedicineALS is a fatal neurodegenerative disease that typically takes 10 to 16 months for symptoms to manifest into a diagnosis in the United States. Early detection can improve patients' quality of life, which may extend survival, though current biomarkers involving fluid and imaging tests are often invasive, costly, and challenging to incorporate into routine clinical practice. According to the ALS Association, average survival time is three years, while 20% of people with ALS live five years or longer.
Using advanced laser ablation-inductively coupled plasma-mass spectrometry (LA-ICP-MS), which analyzes elemental and isotopic compositions of solid samples by vaporizing tiny particles with a laser, the research team studied individual hair strands from 391 participants - 295 ALS-positive cases and 96 controls. Each strand provided up to 800 data points representing elemental fluctuations at approximately two to four-hour intervals.
The researchers analyzed 17 elements—including copper, zinc, magnesium, and lead—and employed sophisticated information theory tools to assess changes in these patterns over time.
The study bolsters evidence that copper plays a pivotal role in ALS. The research revealed reduced synchrony (less coordination and alignment) in copper-based elemental networks among ALS patients compared to controls, indicating systemic alterations in copper metabolism. Male patients exhibited weaker dynamics between copper and zinc, while female patients showed disruptions in chromium-nickel patterns.
"Our study demonstrates that hair serves as a window into the body's elemental balance," said Manish Arora, BDS, MPH, Ph.D., the Edith J. Baerwald Professor of Environmental Medicine at Mount Sinai and senior author of the study.
"By tracking elements like copper over time, we can identify disruptions linked to ALS in a straightforward, non-invasive manner. This approach could revolutionize how we diagnose ALS, making it faster, easier, and more accessible."
"This is the first-ever research using hair strands to identify elemental dysregulation in ALS," said Vishal Midya, Ph.D., Assistant Professor of Environmental Medicine at Mount Sinai and co-senior author. "We found differences in copper biodynamics among patients versus controls that suggest a potential diagnostic role for hair."
While this study doesn't offer a definitive diagnostic test yet, it illustrates the promise of hair as a new biomarker for ALS. A simple hair-based test could potentially reduce time to diagnosis and enable patients to start treatment quicker. Early intervention involving medication, nutrition plans, assistive devices, therapy, and counseling can enhance quality of life and might possibly extend survival.