6 ms·

Cause of ALS is found, Northwestern team says

86 points by nurik 15y ago

dirtyaura 15y ago
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!
bhousel 15y ago
If it turns out to be true, this guy deserves a Nobel Prize in medicine.
thedoctor 15y ago
Here's the journal article in Nature: http://www.nature.com/nature/journal/vaop/ncurrent/full/nature10353.html http://www.nature.com/nature/journal/vaop/ncurrent/full/natu...
ams6110 15y ago
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.
rms 15y ago
There's been lots of good news in medicine lately. Here's to a decade filled with great scientific advances.
- rquantz 15y ago
  A decade ago there were promises of huge advances in treating diseases based on knowledge related to the human genome project, but then gene therapy kind of fizzled out. I'm wondering if all the latest medical breakthrough news is just the latest round of similarly overhyped findings, or if this is something else. Specifically, now that basic gene replacement -- perhaps we could call that a naive application of the new genetic knowledge -- has generally been ruled out, scientists have been looking for more subtle ways of applying what they learned in the last two decades wrt genetics/molecular biology and it is starting to bear fruit. INAD, but if anyone has insight into whether this describes what has been happening lately, I'm curious to hear.
davidgreen24 15y ago
Never more proud to be a Northwestern alum. Go Cats!
gmac 15y ago
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".
linktylr 15y ago
My dad also died of ALS last year. 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? So ubiquilin2 is unable to repair damaged proteins in people with ALS. The question is, why? 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! Still, this is progress. My dad donated his body to Northwestern for research so I can't help but be proud today.
- gfodor 15y ago
  > Why is that always the first solution we turn to? First, I'm sorry for your loss. I did want to point out that there's no reason to believe that this is an either-or situation. Clearly research can progress in all directions now in a more focused manner: further understanding the cause of the mechanism identified, as well as attacking it directly.
  - linktylr 15y ago
    Yes, I agree. If we can develop a drug, I'm all in favor of it and this certainly gets us closer to that goal. I'm simply arguing that the search for a wonder drug/magic bullet always seems to overshadow so called root causes. Noticeably absent from the tribune article (have not yet read the Nature article) is any discussion of environmental triggers such as diet or lifestyle. We often jump from disease to drug without considering the causal factors.
    - Bud 15y ago
      Figuring out and treating/resolving causal factors does not generate millions for pharmaceutical companies. Developing drugs does. In particular, discovering environmental factors and trying to resolve those especially does not produce reliable revenue streams for pharmaceutical firms, and also rankles those with certain political assumptions.
warech 15y ago
This is a link to the full text: http://extremelongevity.net/wp-content/uploads/als_discovery.pdf http://extremelongevity.net/wp-content/uploads/als_discovery... 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).
- avalind 15y ago
  The difference between letters and full articles is described here [1]. I don't think that one should view the length of the paper or whether it's published as a Letter or an article as a marker for its scientific importance. For instance, The paper that Watson & Crick published that described the structure of DNA was only slightly longer than a single page [2]. [1] http://www.nature.com/nature/authors/gta/2a_Manuscript_formatting.pdf http://www.nature.com/nature/authors/gta/2a_Manuscript_forma... [2] http://www.nature.com/nature/dna50/watsoncrick.pdf http://www.nature.com/nature/dna50/watsoncrick.pdf
niels_olson 15y ago
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. 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. Best of luck on the quest though.
- linktylr 15y ago
  I wonder if intermittent fasting would be an effective deterrent of ALS through autophagy, though I highly doubt this would be of much good after the disease takes hold.

86 points by nurik 15y ago

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!

bhousel 15y ago

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

thedoctor 15y ago

Here's the journal article in Nature: http://www.nature.com/nature/journal/vaop/ncurrent/full/nature10353.html http://www.nature.com/nature/journal/vaop/ncurrent/full/natu...

ams6110 15y ago

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.

rms 15y ago

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

rquantz 15y ago
A decade ago there were promises of huge advances in treating diseases based on knowledge related to the human genome project, but then gene therapy kind of fizzled out. I'm wondering if all the latest medical breakthrough news is just the latest round of similarly overhyped findings, or if this is something else. Specifically, now that basic gene replacement -- perhaps we could call that a naive application of the new genetic knowledge -- has generally been ruled out, scientists have been looking for more subtle ways of applying what they learned in the last two decades wrt genetics/molecular biology and it is starting to bear fruit. INAD, but if anyone has insight into whether this describes what has been happening lately, I'm curious to hear.

davidgreen24 15y ago

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

gmac 15y ago

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".

linktylr 15y ago

My dad also died of ALS last year. 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? So ubiquilin2 is unable to repair damaged proteins in people with ALS. The question is, why? 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! Still, this is progress. My dad donated his body to Northwestern for research so I can't help but be proud today.

gfodor 15y ago
> Why is that always the first solution we turn to? First, I'm sorry for your loss. I did want to point out that there's no reason to believe that this is an either-or situation. Clearly research can progress in all directions now in a more focused manner: further understanding the cause of the mechanism identified, as well as attacking it directly.
- linktylr 15y ago
  Yes, I agree. If we can develop a drug, I'm all in favor of it and this certainly gets us closer to that goal. I'm simply arguing that the search for a wonder drug/magic bullet always seems to overshadow so called root causes. Noticeably absent from the tribune article (have not yet read the Nature article) is any discussion of environmental triggers such as diet or lifestyle. We often jump from disease to drug without considering the causal factors.
  - Bud 15y ago
    Figuring out and treating/resolving causal factors does not generate millions for pharmaceutical companies. Developing drugs does. In particular, discovering environmental factors and trying to resolve those especially does not produce reliable revenue streams for pharmaceutical firms, and also rankles those with certain political assumptions.

warech 15y ago

This is a link to the full text: http://extremelongevity.net/wp-content/uploads/als_discovery.pdf http://extremelongevity.net/wp-content/uploads/als_discovery... 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).

avalind 15y ago
The difference between letters and full articles is described here [1]. I don't think that one should view the length of the paper or whether it's published as a Letter or an article as a marker for its scientific importance. For instance, The paper that Watson & Crick published that described the structure of DNA was only slightly longer than a single page [2]. [1] http://www.nature.com/nature/authors/gta/2a_Manuscript_formatting.pdf http://www.nature.com/nature/authors/gta/2a_Manuscript_forma... [2] http://www.nature.com/nature/dna50/watsoncrick.pdf http://www.nature.com/nature/dna50/watsoncrick.pdf

niels_olson 15y ago

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. 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. Best of luck on the quest though.

linktylr 15y ago
I wonder if intermittent fasting would be an effective deterrent of ALS through autophagy, though I highly doubt this would be of much good after the disease takes hold.