New Amyotrophic Lateral Sclerosis Biomarker Identified in Study

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ALS clinical trial

Researchers have discovered a potential new biomarker for amyotropic lateral sclerosis (ALS) — microRNA-206 — from studies using an experimental mouse model and the blood serum of 12 people with ALS. The report describing their research, titled “MicroRNA-206: A Potential Circulating Biomarker Candidate for Amyotrophic Lateral Sclerosis,” appeared in the journal PLOSone.

ALS (also known as Lou Gehrig’s Disease) is a fatal neurological condition in which cells that control movement degenerate. Voluntary muscle control deteriorates, ultimately leading to complete paralysis. Biomarkers could help to diagnose ALS and predict how rapidly the disease will progress in specific individuals. MicroRNAS (miRNAs) are small molecules that can change gene expression and are often altered in diseases, making them potentially useful as biomarkers.

Led by Janne M. Toivonen of the Laboratorio de Genética Bioquímica, Embriología y Genética Animal, Universidad de Zaragoza, in Spain, the team studied genetically modified mice (transgenic animals) with symptoms of ALS that had excessive gene expression of the enzyme superoxide dysmutase (SOD), which may contribute in ALS development. The team examined blood as well as muscles taken from the animals using a laboratory technique known as a microarray, which can measure many different RNAs at one time. They also measured blood serum of 12 people with ALS, making this the first study to examine microRNAs in humans with ALS.

The scientists found increases in miRNA-206 both in mice and humans, and which corresponded to disease severity in mice.

In their publication, scientists noted that “miR-206 is elevated in the circulation of symptomatic SOD1-G93A mice and possibly in human ALS patients. Although larger scale studies on ALS patients are warranted, miR-206 is a promising candidate biomarker for this motor neuron disease.”

This study could provide a promising biomarker that might be used to monitor and identify different subtypes of ALS. Because only 12 people were tested, larger studies will be necessary to understand whether this is a general characteristic found in ALS patients or whether miRNA-206 is only found in a specific ALS population.  Further studies are also needed to determine if the biomarker is elevated with disease severity in humans, similar to the results observed in mice. Overall, these results hold promise for improving ALS diagnosis, subtyping, and prognosis, and possibly to identify miRNA-206 as a future target for ALS treatments.