New Research “Turned Back The Clock” And Could Potentially Lead To Earlier ALS Diagnoses And New Treatment Options
You may have first learned about Amyotrophic Lateral Sclerosis (ALS) after the “ice bucket challenge” rapidly circulated throughout social media in 2014.
ALS is a “progressive nervous system disease that affects nerve cells in the brain and spinal cord, causing loss of muscle control,” according to the Mayo Clinic.
This rare disease affects about five thousand U.S. adults each year and, as it progresses, can drastically impact patients’ quality of life.
While there is still no known cure for ALS, though, researchers at FAU in Germany and the University of California San Diego (UCSD) have made gains in potentially allowing medical professionals to identify the disease’s onset at an earlier stage.
The study, which has since been published in Acta Neuropathologica, was based on a protein known as TDP-43.
Beate Winner, the head of the Stem Cell Biology Department at FAU, explained the significance of TDP-43 in end-stage ALS.
“We have known for roughly fifteen years that during the end stage of the disease, the protein TDP-43 found in neurons becomes insoluble and starts to form clumps,” she began.
In other words, the protein ceases normal function and becomes toxic. However, this “switch” is not noticeable to patients or medical professionals when it occurs. And because of this, no preventative actions can be taken.
“So, we wanted to know whether we could find causes for ALS at an early stage of development before the TDP-43 changes,” Winner continued.
bnenin – stock.adobe.com – illustrative purpose only, not the actual person
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In turn, the research team first extracted skin samples from ALS patients and a healthy control group.
Then, they reprogrammed these cells into “induced pluripotent stem cells”– or cells that are very similar to the ones present during the early stages of human development.
“Basically, we turned back the clock and generated neurons imitating the developmental stage of a fetus,” Winner said.
Afterward, the team looked for insoluble proteins in the ALS patients’ samples. And miraculously, they discovered NOVA1– an RNA-binding protein– that was not present in the control group.
The researchers have since investigated what NOVA1 binds to and the impact this binding has on human neurons.
And now, they believe this discovery may open the door to early ALS diagnosis and new treatment options following further research.
“We have made a pioneering discovery, but it is only one first step towards possibly being able to detect ALS in the early stages. Follow-up studies with larger cohorts could deepen our understanding of the importance of RNA-binding proteins,” Winner concluded.
To read the study’s complete findings, visit the link here.
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