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NIH researchers identify new gene mutation associated with ALS and dementia

A rare mutation in a gene involved in RNA metabolism, which is part of the control mechanism determining protein synthesis within the cell, has been linked with development of familial amyotrophic lateral sclerosis (ALS). This finding, from a research team led by investigators at the NIA appears 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; 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.

Working with DNA samples from families in which several people had been diagnosed with ALS and dementia, the investigators used exome sequencing—a technique in which the entire coding regions of DNA are sequenced—to identify the mutation in the Matrin 3 gene, which is located on chromosome 5. 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 researchers another target to explore in the pathogenesis of this disease. In addition, it provides additional evidence that some disruption in RNA metabolism, an essential process within all cells, is involved in neuron death in ALS.

Reference: Johnson JO, et al. Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis. Nature Neuroscience. Published online March 30, 2014. doi:10.1038/nn.3688