Researchers identify new gene mutation associated with ALS

April 1, 2014 by Barbara Cire

A research team led by investigators at the National Institute on Aging at the National Institutes of Health has discovered a new gene mutation associated with ALS, amyotrophic lateral sclerosis. The mutation is involved in RNA metabolism, which is part of the control mechanism determining protein synthesis. The findings appear in the March 30, 2014, issue of Nature Neuroscience.

ALS, often referred to as Lou Gehrig's disease, is a rapidly progressive, fatal neurological disorder that kills about 6,000 Americans each year. The disease attacks and kills nerve cells in the brain and spinal cord, and people with ALS lose strength and the ability to move their arms, legs, and body, and eventually, the ability to breathe without support. About 10 percent of people with ALS have a directly inherited form of the disease.

The discovery involves a mutation in the Matrin 3 gene, located on chromosome 5. The researchers applied exome sequencing to DNA samples from families in which several people had been diagnosed with ALS and identified the Matrin 3 mutation in a number of individuals. Further investigation revealed an interaction between the Matrin 3 protein and the TDP-43 protein, an RNA-binding protein whose mutation is known to cause ALS.

"The identification of this gene mutation gives us another target to explore in the pathogenesis of this disease," said senior author Bryan J. Traynor, M.D, Ph.D., of NIA's Laboratory of Neurogenetics. "It also provides additional evidence that some disruption in RNA metabolism, an essential process within all cells, is involved in neuron death in ALS."

Explore further: Mechanism discovered for how amyotrophic lateral sclerosis mutations damage nerve function

More information: "Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis" by Johnson, J.O., et al. Nature Neuroscience. Published online on March 30, 2014. DOI: 10.1038/nn.3688

Related Stories

Researchers identify new genetic mutation for ALS

January 15, 2013

Researchers at Western University in London, Canada, have identified a new genetic mutation for amyotrophic lateral sclerosis (ALS), opening the door to future targeted therapies. Dr. Michael Strong, a scientist with Western's ...

Silent RNAs express themselves in ALS disease

December 2, 2013

RNA molecules, used by cells to make proteins, are generally thought to be "silent" when stowed in cytoplasmic granules. But a protein mutated in some ALS patients forms granules that permit translation of stored RNAs, according ...

Recommended for you

Placebo sweet spot for pain relief found in brain

October 27, 2016

Scientists have identified for the first time the region in the brain responsible for the "placebo effect" in pain relief, when a fake treatment actually results in substantial reduction of pain, according to new research ...

Team announces mapping of the mouse cortex in 3-D

October 27, 2016

The Allen Institute for Brain Science has completed the three-dimensional mapping of the mouse cortex as part of the Allen Mouse Common Coordinate Framework (CCF): a standardized spatial coordinate system for comparing many ...

Neuro chip records brain cell activity

October 26, 2016

Brain functions are controlled by millions of brain cells. However, in order to understand how the brain controls functions, such as simple reflexes or learning and memory, we must be able to record the activity of large ...


Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.