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.".
About this blog
Get a behind-the-scenes look at the latest stories from CNN Chief Medical Correspondent, Dr. Sanjay Gupta, Senior Medical Correspondent Elizabeth Cohen and the CNN Medical Unit producers. They'll share news and views on health and medical trends - info that will help you take better care of yourself and the people you love.
Hey there! I just would like to offer you a huge thumbs up for your excellent information you've got right here on this post. I'll be coming back to your blog for more soon.
This website definitely has all of the information I wanted about this subject and didnít know who to ask.
wonderful points altogether, you simply gained a new reader. What would you suggest about your post that you made some days ago? Any positive?
Can I simply just say what a comfort to find somebody that really understands what they are talking about on the net. You actually realize how to bring a problem to light and make it important. More and more people need to look at this and understand this side of the story. I was surprised you aren't more popular because you most certainly have the gift.
Nice post. I learn something new and challenging on sites I stumbleupon everyday. It's always exciting to read articles from other writers and practice something from other sites.
Hello there! I just would like to give you a huge thumbs up for the excellent info you have got right here on this post. I'll be coming back to your website for more soon.
I like looking through a post that will make people think. Also, thanks for allowing me to comment!
Excellent web site you have here.. Itís hard to find good quality writing like yours nowadays. I truly appreciate people like you! Take care!!
Oh my goodness! Incredible article dude! Many thanks, However I am encountering difficulties with your RSS. I donít know why I am unable to join it. Is there anybody else having the same RSS issues? Anyone who knows the answer will you kindly respond? Thanks!!
You've made some really good points there. I looked on the internet for more information about the issue and found most individuals will go along with your views on this website.
This is a topic that's near to my heart... Best wishes! Where are your contact details though?
After exploring a handful of the articles on your website, I seriously appreciate your technique of blogging. I book marked it to my bookmark site list and will be checking back in the near future. Take a look at my web site too and let me know your opinion.
Good post. I'm dealing with some of these issues as well..
Wonderful post! We will be linking to this great content on our site. Keep up the great writing.
I love it when individuals come together and share thoughts. Great website, keep it up!
I was able to find good info from your blog articles.
You should take part in a contest for one of the most useful blogs on the net. I most certainly will highly recommend this blog!
This is a topic which is near to my heart... Best wishes! Where are your contact details though?
After exploring a number of the articles on your website, I honestly appreciate your way of writing a blog. I bookmarked it to my bookmark webpage list and will be checking back in the near future. Please visit my web site as well and let me know how you feel.
bookmarked!!, I really like your web site!
Made to API 5L specifications, Trident Steel'' s provides schedule 40 as well as 80 ERW line pipe in grades from B to X70. A cost-efficient alternative for pipe, our high yield ERW pipeline is frequently used for midstream applications and is offered for same-day delivery. Obtain a quote today!
I really wanted to construct a remark so as to thank you for all of the unique tricks you are showing on this website. My long internet investigation has at the end been rewarded with beneficial facts to go over with my colleagues. I would suppose that we readers actually are unquestionably fortunate to live in a fantastic website with many lovely people with very beneficial guidelines. I feel somewhat fortunate to have come across your web pages and look forward to really more brilliant minutes reading here. Thank you once again for a lot of things.
I wish to express some appreciation to this writer just for bailing me out of this type of incident. Right after surfing around through the search engines and finding ways which are not helpful, I believed my life was done. Existing without the solutions to the difficulties you have resolved by way of your main website is a serious case, as well as ones that might have negatively affected my entire career if I hadn't encountered your site. Your good training and kindness in dealing with the whole thing was precious. I am not sure what I would've done if I hadn't come upon such a subject like this. I'm able to at this point look forward to my future. Thanks very much for the skilled and sensible help. I will not be reluctant to recommend the website to anyone who needs assistance about this area.
I delight in Whatever you fellas are generally up far too. This sort of intelligent perform and protection! Sustain the excellent functions fellas I’ve included you fellas to my blogroll.
Per The Hollywood Reporter, the movie will have a look at the legendary performer's life in three sections.
Hmm it seems like your website ate my first comment (it was super long) so I guess I'll just sum it up what I had written and say, I'm thoroughly enjoying your blog. I too am an aspiring blog writer but I'm still new to everything. Do you have any helpful hints for rookie blog writers? I'd definitely appreciate it.
What's up everyone, it's my first go to see at this site, and article is truly fruitful designed for me, keep up posting these articles or reviews.|