Cause of ALS is found, Northwestern team says

[Greg Bernhardt]

What do you think?

Researchers at Northwestern University say they have discovered a common cause behind the mysterious and deadly affliction of amyotrophic lateral sclerosis, or Lou Gehrig's disease, that could open the door to an effective treatment.

Dr. Teepu Siddique, a neuroscientist with Northwestern's Feinberg School of Medicine whose pioneering work on ALS over more than a quarter-century fueled the research team's work, said the key to the breakthrough is the discovery of an underlying disease process for all types of ALS.

http://www.chicagotribune.com/lifes...hwestern-als-breakthrough-20110822-story.html

 

[Ygggdrasil]

~5-10% of ALS cases are inherited from one's parents, and a lot of effort has gone into tracking down what mutations are responsible for these familial cases of ALS. Wikipedia has a list of some of the mutations associated with various forms of familial ALS. Common genetic variants associated with ALS include a mutation in superoxide dismutatse (an enzyme that elimnates free radicals), which accounts for ~ 2% of ALS cases overall, and mutations in a region of chromosome 9 of unknown function called C9orf72, which accounts for ~6% of ALS cases among white Europeans. How mutations in these and other genes lead to ALS is not currently very well understood and is an active area of research (for example, Science recently published a pair of papers examining how mutations in C9orf72 might contribute to neurodegeneration). The news article Greg cites comes from a 2011 paper in Nature that identifies mutations of the gene UBQLN2 as the cause of familial ALS in the family they studied.

While familial ALS account for only a very small amount of those with the disease, these studies are very important because they point out particular biochemical pathways in the brain that, when disrupted, lead to ALS. Figuring out how these mutations lead to the development of ALS could potentially give insight into how one might go about treating the disease. However, like cancer, ALS and other neurodegenerative diseases seem like very complex diseases that can have multiple causes, whose treatment may vary for case to case.

 

[SteamKing]

It should be noted that the Chicago Tribune article linked to in the OP is more than 3 years old.

 

[Greg Bernhardt]

It should be noted that the Chicago Tribune article linked to in the OP is more than 3 years old.

Yikes how did I miss that! Must not have been that important.

 

[SteamKing]

Well, ALS has been researched for almost 75 years now, so any news about an incurable disease is not necessarily bad news.