Cause of ALS is found, Northwestern team says

My dad also died of ALS last year.<p>Identifying the cellular mechanisms underlying ALS is crucial. At the same time I'm disheartened by the conclusion of the researchers that this will pave the way to the development of drugs. Why is that always the first solution we turn to?<p>So ubiquilin2 is unable to repair damaged proteins in people with ALS. The question is, why?<p>I can't help but believe ALS is an autoimmune disease that is caused by the combination of genes and an environmental trigger. The fact that this possibility isn't even mentioned in the article suggests that we have a long way to go. Drugs, though helpful in some situations, are often merely band-aids. Let's find the trigger!<p>Still, this is progress. My dad donated his body to Northwestern for research so I can't help but be proud today.

Here's the journal article in Nature: <a href="http://www.nature.com/nature/journal/vaop/ncurrent/full/nature10353.html" rel="nofollow">http://www.nature.com/nature/journal/vaop/ncurrent/full/natu...</a>

Just finished reading the article from Nature (thanks, warech). So, they're saying this ubiquilin 2 protein has a consistent mutation compared to the wild type, it's found in patients with ALS, it' found in intr-neural tangles, and they're hypothesizing that this protein may be involved in clearing misfolded proteins. Wouldn't it be at least as likely that it is one of the misfolded proteins targeted for clearing? I think the senior author, Seddique, is right: this gives them a good direction to go in. But it's still a long road.<p>Unfortunately, we don't have many good cures for these sorts of diseases yet. Enzyme replacement has worked to slow the progress of a couple of metabolic diseases (to the tune of tens of thousands of dollars per treatment), but I'm not aware of anything that can meaningfully clean the intracellular environment of built up detrius, especially in the central nervous system. That's a tall order. How would you do that? Intrathecal injections of a virus to splice in a functioning copy of the gene? Viruses are not well tolerated in the CNS, to my knowledge, eg, Herpes simplex encephalitis is lethal.<p>Best of luck on the quest though.

This is a link to the full text: <a href="http://extremelongevity.net/wp-content/uploads/als_discovery.pdf" rel="nofollow">http://extremelongevity.net/wp-content/uploads/als_discovery...</a><p>I'm hesitant to put too much hope in this discovery. I would expect a discovery of this magnitude to be published as a full article in Nature, rather than a Nature Letter. I'm not sure of the difference in the publishing process for the two, but Letters generally come across a bit rushed and are less exhaustive than published articles (citation needed).

If it turns out to be true, this guy deserves a Nobel Prize in medicine.

For those who come to the comments before the article, ALS means amyotrophic lateral sclerosisis or Lou Gehrig's disease, and "is a paralytic and usually fatal disorder caused by motor-neuron degeneration in the brain and spinal cord".

My mother died of ALS; this is encouraging news. Of course it's not a treatment, yet, but given that nothing else so far has really been effective, it's a promising discovery.

As my dad died of familial ALS last year, thus this is fantastic news to me. And of all places, I learn this information from HN first. Thanks HN!

There's been lots of good news in medicine lately. Here's to a decade filled with great scientific advances.

Never more proud to be a Northwestern alum. Go Cats!