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Old 01-20-2013, 07:37 PM   #1 (permalink)
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Default A newly discovered genetic defect

was reported by Western University in London It is called ARHGEF28 and from what I understand is found in the majority of ALS cases they looked at. The affected gene works to repair cells so if it is defective it would make sense as a cause of ALS. Hopefully this is good news. If this is a common denominator it should be a place to work on treatments and a cure!

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Old 01-21-2013, 07:04 PM   #2 (permalink)
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Default Re: A newly discovered genetic defect

wpw thanks for posting that Nikki i will be researching more
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Old 01-21-2013, 08:19 PM   #3 (permalink)
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Default Re: A newly discovered genetic defect

Thanx we r going to London to see r specialist in March nd will b asking about this for sure
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Old 01-22-2013, 12:03 AM   #4 (permalink)
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Default Re: A newly discovered genetic defect

Wow ... they haven't really been able to find a common denominator in ALS up to this point, right? Seems like this is pretty ground-breaking.
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Old 01-22-2013, 01:31 PM   #5 (permalink)
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Default Re: A newly discovered genetic defect

That was my thought as well. and it apparently applies equally to FALS as well as SALS.I am anxious to hear what the ALS experts say.
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Old 01-24-2013, 05:46 PM   #6 (permalink)
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Default Re: A newly discovered genetic defect

Here's the article:

Researchers at Western University in London, Canada, have identified a new genetic mutation for amyotrophic lateral sclerosis (ALS), opening the door to future targeted therapies. Dr. Michael Strong, a scientist with Western's Robarts Research Institute and Distinguished University Professor in Clinical Neurological Sciences at the Schulich School of Medicine & Dentistry, and colleagues found that mutations within the ARHGEF28 gene are present in ALS. When they looked across both familial and sporadic forms of the disease, they found that virtually all cases of ALS demonstrated abnormal inclusions of the protein that arises from this gene. The research is published online in Amyotrophic Lateral Sclerosis and Frontotemporal Degeneratio, the official journal of The World Federation of Neurology Research Group on Motor Neuron Diseases.

ALS, sometimes called Lou Gehrig's disease, is a progressive disease that affects the motor neurons that connect the brain to muscles throughout the body. It is a devastating disease with 90 per cent of patients dying within five years of diagnosis. As many as 30,000 Americans and 2,000 Canadians are living with ALS.

Strong's team is convinced ALS is a disorder of RNA metabolism. RNA is the intermediary or messenger between genes and the protein being made. This new protein appears to play a critical role. "Every time we look at a cell degenerating, this particular protein was deposited abnormally in the cell. It was a common denominator," explains Strong, who is also the Dean of Schulich Medicine & Dentistry. "Working with Dr. Rob Hegele at Robarts, we found there was a genetic mutation in the gene coding for this protein. So it's a huge discovery."

Unlike most proteins which have one key function, this one has two. "One side works with RNA. The other side has the capacity to regenerate or to deal with an injury. We think those are competitive activities so if it's doing one, it's not available to do the other," says Strong. In the case of ALS, Strong believes the protein is disturbed on the RNA side so it's no longer able to respond to cell injury. "We need to understand what causes the switch between the two functions, and then can we modulate it."
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Old 01-27-2013, 11:24 AM   #7 (permalink)
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Default Re: A newly discovered genetic defect

maybe you are in right track but I thinks it is still researchable something more to be sure, you claim.
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Old 01-28-2013, 10:04 AM   #8 (permalink)
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Default Re: A newly discovered genetic defect

Very interesting, Nikki.

How did you find out about this? I didn't see any other news about it. There are more than one genetic defects in ALS, according to my neurologist, James Berry, who does ALS research. Mine is C9ORF72, discovered in Ireland in 2011. I have the genetic from of ALS, as I'm the third member of my family to have it.

Eileen
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Old 01-28-2013, 04:27 PM   #9 (permalink)
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Default Re: A newly discovered genetic defect

Hi Eileen
Someone posted a link to the article on another als s ite. I too am surprised there has not been more discussion/publicity about this. I am anxious to hear more about it from the neurologists.
We are also a c9 family. the article says it is found in sals and fals. the implication seemed to be that we would have both defects? I was unclear about that. I wondered also if that is why some c9 family members do not get als (if they have c9 but not this genetic defect too) I have an aunt who has progressive supranuclear palsy. We were told some c9 positive family members might have psp or dementia without als maybe this is why?
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Old 01-30-2013, 05:08 PM   #10 (permalink)
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Default Re: A newly discovered genetic defect

Nikki J

I've found the abstract of the research paper via Pubmed and there's a big gap between it and the article; I suspect that the reporter got a bit carried away. There's certainly no suggestion in the paper that they have found one mutation common to all people with ALS, and their sample was 7 people with FALS.

That's probably why there has been very little discussion of it; your neurologist will be able to explain what it might mean for your family, if anything.
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Old 01-30-2013, 06:04 PM   #11 (permalink)
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Default Re: A newly discovered genetic defect

Thanks Grateful. It certainly was a very small sample but it does look like at least some of those people had another already identified mutation The outcome of this may be that Fals people need to be tested for more than their known mutation. This is already discussed in the Fals community as if it isn't enough worry about one mutation! Oh well!
Thanks again
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