Researchers identify new gene mutation associated with ALS

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."

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

add to favorites email to friend print save as pdf

Related Stories

Researchers identify new genetic mutation for ALS

Jan 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 ...

Silent RNAs express themselves in ALS disease

Dec 02, 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 ...

Recommended for you

Surprising new role for calcium in sensing pain

3 hours ago

When you accidentally touch a hot oven, you rapidly pull your hand away. Although scientists know the basic neural circuits involved in sensing and responding to such painful stimuli, they are still sorting ...

Neurons in human skin perform advanced calculations

23 hours ago

Neurons in human skin perform advanced calculations, previously believed that only the brain could perform. This is according to a study from Umeå University in Sweden published in the journal Nature Ne ...

Memory in silent neurons

Aug 31, 2014

When we learn, we associate a sensory experience either with other stimuli or with a certain type of behavior. The neurons in the cerebral cortex that transmit the information modify the synaptic connections ...

User comments