Scientists have discovered a new mutation that may cause amyotrophic lateral sclerosis to develop. Amyotrophic lateral sclerosis, or ALS in short, is a neurodegenerative illness that weakens an individual’s muscles and affects their physical function.
It starts by degenerating nerve cells in the brain and spinal cord, affecting an individual’s voluntary control of legs and arms. The illness leads to trouble breathing, swallowing and may cause slurred speech.
The illness is rare, with an average incidence of 1.4 to 2.4 cases in every 100,000 individuals annually. Additionally, the illness, which is sometimes referred to as motor neuron disease, has no known cause and no known cure. However, scientists have determined that at least 5% to 10% of ALS cases are inherited. This comes after clinicians observed that between 2009–2022, the illness’ incidence was higher in Spain’s La Rioja region.
This allowed scientists from Sant Pau Hospital and Sant Pau Research Institute to discover that the ARPP21 gene may cause ALS. Sant Pau Hospital is a national referral center for neuromuscular illnesses in Spain.
The objective of the study, led by Ricard Rojas-García, was to find a common gene associated with motor neuron disease in people who hadn’t tested positive for known ALS genes. For their study, the scientists carried out whole-genome sequencing of twelve individuals with motor neuron disease from the La Rioja region. Of this number, five had a family history of the illness.
The scientists also included additional cases from nearby areas and members of affected families in their study.
They discovered a shared missense mutation in the ARPP21 gene in 10 individuals with ALS from seven unrelated families. These individuals possessed no mutations in other genes known to cause the illness.
The cyclic AMP-regulated phosphoprotein 21 gene (ARPP21) is widely expressed in the brain. This gene plays a role in RNA metabolism, which is central to motor-neuron disease pathophysiology. Most of the genes involved in ALS development encode RNA-binding proteins.
Oriol Dols-Icardo, the first author of the study, stated that the ARPP21 gene would help clinicians to diagnose motor-neuron disease more precisely while also opening the door to studies on new personalized treatments.
Dols-Icardo added that this discovery would also allow researchers to study the function of this RNA-binding protein in ALS. The scientists hope that clinicians and researchers globally will examine their patients and databases to see if this mutation is present in other areas. Such information could be pivotal in the efforts of companies such as Clene Inc. (NASDAQ: CLNN) that are engaged in developing next-gen treatments for this condition.
NOTE TO INVESTORS: The latest news and updates relating to Clene Inc. (NASDAQ: CLNN) are available in the company’s newsroom at https://ibn.fm/CLNN
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