Researchers Discover New Gene Variant Linked to Amyotrophic Lateral Sclerosis

According to a story from EurekAlert!, a team of scientists has discovered a genetic variation that can cause amyotrophic lateral sclerosis. This variant acts on a biologic pathway that has never before been associated with neurodegenerative diseases. The identification of this new variant could lead to more effective approaches for treating the disease.

About Amyotrophic Lateral Sclerosis

Amyotrophic lateral sclerosis (ALS), otherwise known as Lou Gehrig’s disease, is a rare, degenerative disease that causes the death of nerve cells associated with the voluntary muscles. Little is known about the origins of amyotrophic lateral sclerosis, with no definitive cause in about 95 percent of cases. The remaining five percent appear to inherit the disease from their parents. Symptoms initially include loss of coordination, muscle weakness and atrophy, muscle stiffness and cramping, and trouble speaking, breathing, or swallowing. These symptoms worsen steadily over time; most patients die because of respiratory complications. Treatment is mostly symptomatic and the medication riluzole can prolong life. Life expectancy after diagnosis ranges from two to four years, but some patients can survive for substantially longer. To learn more about amyotrophic lateral sclerosis, click here.

Research Findings

Scientists have known that a small percentage of amyotrophic lateral sclerosis cases (perhaps as much as ten percent) are the result of an inherited mutation or abnormality. The mutations that were found in patients were clearly harmful to nerve cells and a zebrafish model of the mutation caused the animal to experience muscular weakness that resembled the disease.

The mutations were sequenced from the genes of two related amyotrophic lateral sclerosis patients. Previously, the mutations that caused their disease had not been identified. The mutation was found to affect the gene GLT8D1. A screening of 103 more patients identified five more that carried it. This was clearly evidence for a previously unknown genetic variant of amyotrophic lateral sclerosis.

It will only be possible to improve outcomes for amyotrophic lateral sclerosis patients with continuous research and new discoveries such as this. The findings were originally published in the scientific journal Cell Reports and can be found here.


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