Friday, January 4, 2013

The biggest Alzheimer Disease discovery in 2012

Kári Stefánsson
Perhaps the biggest discovery in the Alzheimer research world last year was the identification of a mutation in APP that significantly decreases its cleavage by β-secretase, leading to 40% less production of amyloidogenic peptides in vitro. The researchers found the mutation (A673T) in the APP gene protects against Alzheimer’s disease and cognitive decline in the elderly without Alzheimer’s disease.

Future drugs that can recreate this Aβ-reducing effect “should perhaps be given not only to people at risk of Alzheimer’s but to all elderly people,” says Kári Stefánsson, senior investigator of the study, which came out of Iceland and appears online in Nature.


jd said...

That would be tantamount to gene therapy. I don't see this becoming clinically useful in our lifetimes. :-(

Brian E. Moore, MD said...

Hey JD!
Would you agree with me that this is the most significant discovery in the field in 2012? If not, what do you think is? Since this is your area of resarch, I would defer to your opinion on this.

jd said...

Apolipoprotein E controls cerebrovascular integrity via cyclophilin A.

First insight into how apoE maintains BBB integrity.

Anonymous said...

I disagree completely with JD about this requiring a gene therapy approach. A drug that inhibits beta-secretase would have the same effect on production of amyloidogenic peptides, and such drugs have been under development for some time. These could be hugely important in slowing and preventing development of AD.

Anonymous said...

Not too long ago I attended a public lecture on ALS. During the course of the presentation the question of statin use as a possible risk factor briefly came up. Maybe a connection, maybe not. The take home point: more research would have to be done. The question: who is going to do it?

A treatment for Alzheimer's to be recommended for all elderly or for all. Wonder drugs that have been in development for sometime now. What is really holding up their movement to the rapidly aging market in need of prevention? What happens to the best selling cholinesterase inhibitors?