New gene identified as common cause of ALS

Two new studies are bringing scientists closer to slowing down the progression of ALS, as a new gene has been identified as the most common cause of the genetic form of the disease.
 
The studies, published in the September 21 online issue of Neuron, report the identification of the long-sought genetic abnormality which authors say is the most common cause of two different but related forms of neurodegenerative disease: Frontotemporal Dementia (FTD) and ALS.
 
One of these studies was an international collaboration that included Sunnybrook's Dr. Lorne Zinman as co-author.  

A mutation was discovered and found in around 1/3 of patients with familial ALS.  The defect is also the strongest genetic risk factor found to date for the more common, sporadic forms of ALS and FTD. It was found in four percent of sporadic ALS samples and three percent of sporadic FTD.
  
"This is a critical step that will help us determine how the disease develops and progresses, why its presentation and course is variable, and provide a new target for intervention," says Dr. Zinman, medical director of the ALS/Neuromuscular Clinic at Sunnybrook and Chair of the Canadian ALS Research Network (CALS). "The next step is to determine how this mutation causes ALS and FTD. We can also develop cell and animal models using this novel mutation to improve our understanding of the diseases and for screening of therapeutics that may halt progression."
 
Investigators worldwide have been committed to identifying the gene alteration in patients with ALS and FTD linked to this chromosome, and until now it had remained elusive. This gene mutation was identified by collecting blood samples from hundreds of ALS and FTD patients worldwide and using state of the art next-generation sequencing technology.
 
"Finding a mutation representing the majority of patients with familial ALS is a major milestone for the ALS community," says Zinman.  "There has never been more reason to be hopeful and optimistic that ALS research will provide effective therapies for those living with ALS."