Newest ALS Gene Impairs Axon Growth

July 21, 2012

A newly discovered ALS gene points to defects in axon growth as one cause of the disease.  Mutations in the gene, called profilin 1 (PFN1), are responsible for 1% to 2% of familial ALS, according to the new study.

PFN1 helps link individual actin proteins to form actin filaments.  Actin is an important structural protein within motor neurons.  Actin filaments are fibers that provide structure within axons, the long outgrowths of motor neurons.  Growth of actin filaments is necessary for growth of the axons themselves.

An international research team, led by John Landers, Ph.D., of the University of Massachusetts Medical School, performed whole-exome sequencing on DNA samples from two large families with dominantly inherited ALS.  Other ALS genes had been ruled out in these families. They found two different mutations in the PFN1 gene, located on chromosome 17.  Sequencing of PFN1 in 272 additional familial ALS patients with no known genetic cause revealed five more cases.

“This discovery provides us with another important clue that growth of axons is impaired in ALS,” said ALS Association Chief Scientist Lucie Bruijn, Ph.D.  “This is especially significant because it may provide us with a tool to study failure of axonal growth in ALS and to determine if drugs targeted to this process may be beneficial for patients with the disease.”

Click here to read the entire article.


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