New ALS gene mutation discovered
September 21st, 2011
12:01 PM ET

New ALS gene mutation discovered

Researchers have identified a genetic abnormality which they believe to be the most common cause of  two devastating neurological diseases and could provide future clues to treatment.  Two new studies, published online in the journal Neuron, found that amyotrophic lateral sclerosis (ALS) also known as Lou Gehrig's disease and frontotemporal dementia or FTD that run in families are caused in many cases by a mutation on a single gene on chromosome number 9.  This mutation causes a short DNA sequence to repeat over and over, much more frequently than in healthy people.  The ALS Association, which funded both studies, calls the identification of this genetic mutation "a major milestone in ALS research."

According to the data, in healthy individuals the DNA sequence repeats 2 to 23 times. In 23% of familial ALS patients and 12% of familial FTD patients the sequence repeated 700-1,600 times.

ALS and FTD are both fatal neurological diseases of the brain. In ALS, nerve cells in the brain and spinal cord begin to degenerate and patients lose the ability to move their bodies and breathe. Almost 6,000 American are diagnosed with the crippling disease each year.  FTD causes the degeneration of parts of the brain that control language, emotion, behavioral control and the ability to make decisions (the temporal and frontal lobes).  About 20-40% of people with FTD have a family history of the disease.

One study looked at patients in Finland which has a high population of ALS patients, according to lead study author Dr. Bryan Traynor from the National Institute on Aging (NIA).

"With this finding we've gone from understanding a quarter of familial ALS to two-thirds of familial ALS," Traynor said. "In terms of thinking of the future, what this provides us with is a target to go after. What this allows us to do is to design cell models and animal models of disease we can use to start to screen drugs, and therapeutic agents to see if they are effective in turning off this particular genetic mutation."

Traynor says there are 4 genes known to account for 25% of all familial ALS cases. The chromosome 9 gene accounts for an additional 40%.

In the second study, researchers at the Mayo Clinic in Jacksonville, Florida also found the same repeat DNA sequence. "This finding has the potential to lead to significant insights into how both of these neurodegenerative diseases develop," Senior Investigator Dr. Rosa Rademakers, neuroscientist at the Mayo Clinic said. "And may give us much needed leads into new ways to treat our patients."

The ALS Association's Chief Scientist Lucie Bruijn calls the new data tremendously exciting. "These findings will significantly impact the field as we begin to understand more about the consequences of these changes to the disease process, aid or understanding of FTD and ALS, potentially provide a diagnostic tool, and enable the development of new therapeutic approaches."

Still, Traynor says he wants to keep expectations within bounds and be careful not to raise false hopes. That's because typically it's 10 years from gene discovery to clinical trial. He says that's a long time when ALS patients usually live 2-3 years after the onset of symptoms.

"It's a step forward, Traynor said. "Now we know which room in which house on which street in which city and that knowledge facilitates ultimately working up a treatment that will slow down this fatal disease.".

soundoff (17 Responses)


    September 21, 2011 at 15:46 | Report abuse | Reply
  2. Busy Mommy

    I believe this also means we can genetically test for ALS in utero. No more people should be born with ALS.

    September 22, 2011 at 07:23 | Report abuse | Reply
    • daveugber

      that's not how genetics works...it's all percentages...true, perhaps this gene sequence can be tested for, but the gene sequence doesn't guarantee ALS will form, but that there is a -% chance of the person getting it...therefore, testing for the genes and getting a positive for this mutation isn't 100% (or even 50%) promise of contracting this disease...in the future, however, testing for this mutation in utero coule lead to 'gene therapy' of the fetus in its early stages to 'overwrite' this mutation away...that is a long time away at our current understanding...

      September 22, 2011 at 08:10 | Report abuse |
    • shawn

      Yes lets abort all fetuses found to potentially have ALS. Who needs people like Stephen Hawking or Lou Gehrig polluting the planet?!?

      September 22, 2011 at 09:13 | Report abuse |
    • Lou

      Not really. It really has more to do with vitamin D deficiency. Activated vitamin D is a steroid hormone that acts as DNA regulator or maintenance and repair hormone. Maybe because of lack of vitamin D, the damage was done in the womb or early in the age and could not be reversed but however vitamin D treatment (no difference than treating vitamin D deficiency) can prolong your life by slowing down progression. Vitamin D deficiency is much more widespread than anyone realizes and the daily recommended amount is far too low to make a difference. We get much more from the sun but we're being told to stay out or put on sunblock that stops vitamin D production in the skin...

      Med Hypotheses. 2011 May;76(5):643-5.
      Can vitamin D delay the progression of ALS?
      Karam C, Scelsa SN.
      Albert Einstein College of Medicine, Beth Israel Medical Center, 10 Union Square East, New York, NY 10003, USA. chafickaram@hotmail.com
      The pathogenesis of amyotrophic lateral sclerosis (ALS) is multifactorial and a treatment targeting only one aspect of the disease is unlikely to be beneficial. Vitamin D is safe and may delay progression of ALS by acting on several aspects of the disease. In this article we explore how vitamin D may promote VGEF, IGF-1 and axonal regeneration delaying ALS progression. In addition, we discuss how vitamin D may increase calcium binding protein in motor neuron cells conferring a greater resistance to the underlying disease process, as seen in the oculomotor nerve and Onuf's nucleus. Finally, we discuss vitamin D immunomodulator role, decreasing the reactive gliosis in ALS.

      Copyright © 2011 Elsevier Ltd. All rights reserved.

      September 22, 2011 at 13:25 | Report abuse |
    • mp531

      @shawn- ever see any one die from ALS or FTD? Stephen Hawking has a very unusual type of ALS that has slowly progressed over the course of 45+ years! He has slowly deteriorated to where he is now. Its sad but he has "managed" to live with his illness decades longer than the usual ALS patient. Imagine your body deteriorating while your mind remains intact. You may be young. (Mr. Hawking was 21) You still have so much life ahead of you. But then you can no longer walk. Then you can barely move your arms. You lose the ability to hold your head up. And then when your body can no longer force itself to breathe, you suffocate to death, unable to ask for help, mercy, or a loved ones hand to comfort you. You are 24 when your family buries the shell of your body that remains. It not throwing a baby away to screen for these diseases. Its is trying to eradicate something that kills slowly, painfully, and torturously. I have watched a loved one die from ALS. The look in her eyes as her life slipped away will forever haunt me. RIP CJG

      September 22, 2011 at 14:52 | Report abuse |
  3. Ann

    Is this article talking about *only* FALS, which only accounts for around 10% of all ALS cases? Do the studies shed any light on regular, non-inherited ALS, which accounts for the vast majority of ALS?

    September 22, 2011 at 07:59 | Report abuse | Reply
    • daveugber

      my understanding of genetice leads me to believe that all ALS is genetic, but not inherited...some day, i'm sure, scientists will discover how the genetics of the parents combine to form the 'non-inherited' form...thus, people will be able to de-select particular gene sequences in order to avoid their children having a higher likelyhood of contracting the disease...

      i envision a future where (instead of a couple going out for dinner, having a drink or two and then going home and making a baby) a couple goes into a clinic before dinner and selects a sperm/ovary combination they prefer and then going out to dinner...strange...

      September 22, 2011 at 08:17 | Report abuse |
    • Troy Wood

      Hi Ann, I don't think this study sheds light on the much more common sporadic ALS as you suggest. We are still not sure how the two types of ALS may be linked, but this is a huge breakthrough for familiar ALS which can be triggered by numerous genetic variations, though this is definitely one of the biggest if not the biggest identified so far.

      September 22, 2011 at 09:18 | Report abuse |
    • Dar Horn

      Dave, do you base your opinion on science? If so, what is the evidence? If not, voicing this particular opinion is irresponsible as it leads to unnecessary worry in the children of ALS victims. I speak from personal experience.

      September 22, 2011 at 11:53 | Report abuse |
  4. Dumb-Shawn

    Shawn...Stephen Hawking's takes craps that are smarter than you...did you even finish g

    September 22, 2011 at 15:16 | Report abuse | Reply
  5. Liz

    I am absolutely appalled by Shawn's comment. My father died of ALS when I was 9 years old. He was a lung pathologist. My dad and other ALS patients do not "pollute" this planet. Absolutely ridiculous.

    September 22, 2011 at 15:38 | Report abuse | Reply
    • houston

      I think Shawn was using sarcasm to reply to the comment about no one being born with ALS cause we could test for it in utero.

      September 22, 2011 at 15:55 | Report abuse |
    • Megan

      Shawn's comment was a sarcastic rebuttal to BusyMommy's comment. She is the one you should be appalled by. What a sick and wrong way of looking at it. I'm glad you're not MY "mommy".

      September 22, 2011 at 15:56 | Report abuse |
  6. hoosier gal

    A related form of ALS called PLS (Primary Lateral Sclerosis) runs in my family. My fathers 2 brothers both had it. It is a non-fatal form but causes major life altering problems...loss of speech, loss of voluntary muscle functions...debilitating to say the lease. I wonder if this break through will be a break through for that as well???

    September 23, 2011 at 07:32 | Report abuse | Reply
  7. B Garza

    I researched this and read thar its located on the 21st chromosome. Any feed back? also on mice its the 16th. Pls i need to know if this is true.

    May 15, 2012 at 00:07 | Report abuse | Reply
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    May 24, 2012 at 05:10 | Report abuse | Reply

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