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: Researchers identify new genetic mutation for ALS

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

New insights on how cocaine changes the brain

November 25, 2015

The burst of energy and hyperactivity that comes with a cocaine high is a rather accurate reflection of what's going on in the brain of its users, finds a study published November 25 in Cell Reports. Through experiments conducted ...

Can physical exercise enhance long-term memory?

November 25, 2015

Exercise can enhance the development of new brain cells in the adult brain, a process called adult neurogenesis. These newborn brain cells play an important role in learning and memory. A new study has determined that mice ...

Umbilical cells help eye's neurons connect

November 24, 2015

Cells isolated from human umbilical cord tissue have been shown to produce molecules that help retinal neurons from the eyes of rats grow, connect and survive, according to Duke University researchers working with Janssen ...

Brain connections predict how well you can pay attention

November 24, 2015

During a 1959 television appearance, Jack Kerouac was asked how long it took him to write his novel On The Road. His response – three weeks – amazed the interviewer and ignited an enduring myth that the book was composed ...

No cable spaghetti in the brain

November 24, 2015

Our brain is a mysterious machine. Billions of nerve cells are connected such that they store information as efficiently as books are stored in a well-organized library. To this date, many details remain unclear, for instance ...


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.