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Cause of ALS has been found. Could open up treatment for it and other diseases

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H

Herpes Reasons

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Researchers at Northwestern University say they have discovered a common cause behind the mysterious and deadly affliction of amyotrophic lateral sclerosis, or Lou Gehrig's disease, that could open the door to an effective treatment.

Dr. Teepu Siddique, a neuroscientist with Northwestern's Feinberg School of Medicine whose pioneering work on ALS over more than a quarter-century fueled the research team's work, said the key to the breakthrough is the discovery of an underlying disease process for all types of ALS.

The discovery provides an opening to finding treatments for ALS and could also pay dividends by showing the way to treatments for other, more common neurodegenerative diseases such as Alzheimer's, dementia and Parkinson's, Siddique said.

The Northwestern team identified the breakdown of cellular recycling systems in the neurons of the spinal cord and brain of ALS patients that results in the nervous system slowly losing its ability to carry brain signals to the body's muscular system.

Without those signals, patients gradually are deprived of the ability to move, talk, swallow and breathe.

"This is the first time we could connect (ALS) to a clear-cut biomedical mechanism," Siddique said. "It has really made the direction we have to take very clear and sharp. We can now test for drugs that would regulate this protein pathway or optimize it, so it functions as it should in a normal state."

The announcement of the breakthrough is in Monday's issue of the research journal Nature. The paper lists 23 contributing scientists, including the lead authors, Northwestern neurological researchers Han-Xiang Deng and Wenjie Chen, and Siddique as senior author.

ALS afflicts about 30,000 Americans. With no known treatment for the paralysis, 50 percent of all ALS patients die within three years.

It is particularly tragic because it often strikes people who are very physically active. In 1941, New York Yankee baseball superstar Lou Gehrig died at 37 of the disease that now carries his name.

Amelie Gubitz, a research program director at the National Institute of Neurological Disorders and Stroke, said the Northwestern research is a big step forward in efforts worldwide to conquer ALS.

"You need to understand at the cellular level what is going wrong," said Gubitz. "Then you can begin to design drugs.

"ALS is a complicated problem, and Dr. Siddique's research adds a big piece to the puzzle that gives us important new insights."

A variety of proteins perform different functions within cells, and Deng and Chen led research that discovered a key protein, ubiquilin2, in the ALS mystery.

Ubiquilin2 in spinal and brain system cells is supposed to repair or dispose of other proteins as they become damaged. The researchers discovered a breakdown of this function in ALS patients.

When Ubiquilin2 is unable to remove or repair damaged proteins, the damaged proteins begin to pile up in the cells, eventually blocking normal transmission of brain signals in the spinal cord and brain, leading to paralysis.

There are three forms of ALS: "familial," which is hereditary and passed through genes; nonhereditary, which is called "sporadic"; and ALS that targets the brain, called "ALS/dementia."

Siddique was part of a study that made a breakthrough in ALS in the early 1990s, discovering the "familial" gene that causes the disease within some families. That breakthrough came after he began an ongoing study 25 years ago of an East Coast family that has lost more than 20 members to ALS.

Joanne Saltzman, a 72-year-old member of that family, recalled last week how she first learned of ALS when she was a small girl and her father, a naval veteran, was dying of the disease. Her grandfather died of it, too, as did four of her father's seven brothers.

Subsequently, one of Saltzman's sisters and many of her cousins died from ALS. It killed her 51-year-old son last October, she said in a phone interview, and in February her 52-year-old niece died of it.

"I am so excited by their new findings," Saltzman said of the Northwestern study. "Dr. Siddique has been studying our family for 25 years, and it is so encouraging for our remaining family."

"I told Dr. Siddique's office, if I could cut off my arm and send it to them I would if it would help them in the research," she said. "I would do anything. It is so important to me to be able to find some kind of cure for this awful disease."
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M

Majine

Banned
This year must be a milestone for ALS treatment, between this and the ice bucket challenge which paid off big time for research.
 
S

Stet

Banned
zeemumu said:
Hmm, maybe we should do ice bucket challenges for other diseases.
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Drug development is by far the most expensive part of treating a disease, so no, it's probably for the best that there is still a ton of money going to the cause.
 
terrisus

terrisus

Member
mF7O71k.jpg


A good friend of my father's passed away a few years ago from this disease.
Great to see progress being made on it.
 
A

Anoregon

The flight plan I just filed with the agency list me, my men, Dr. Pavel here. But only one of you!
Wow, if they actually develop treatments over the course of the next few years that would be really amazing. Even if the treatments just halt the progression of the disease instead of curing it outright, it would be a huge development.
 
T

TangoAlphaLima

Member
I don't wanna be a wet blanket here, but...

Researchers at Northwestern University say they have discovered a common cause behind the mysterious and deadly affliction of amyotrophic lateral sclerosis, or Lou Gehrig's disease, that could open the door to an effective treatment.
Click to expand...

This is potentially a big deal, but there's still probably a long way to go.
 
shira

shira

Member
We can now test for drugs that would regulate this protein pathway or optimize it, so it functions as it should in a normal state
Click to expand...

The cure is going to be so fucking expensive
 
A

Alienous

Member
Well I'll be gahd damn.

What should we figure out next? I've got a bucket of sausages.

EDIT:
Wait a second, what happened to this thread? Lol. Nevermind. Bucket of sausages rescinded.
 
E

ElFly

Member
Maybe the cause was....a sudden cooling of the head, like if you dropped an ice cold water cube on you.
 
Duane Cunningham

Duane Cunningham

Member
robotzombie said:
you are happy that you chose to pour ice water over your head as a challenge instead of having to give money for als research?
Click to expand...

You realize that the ice bucket challenge involved dumping water on your head AND donating money, right? The choice was $100 and no water, or $10 and water (and the vast majority couldn't afford $100 anyway, but getting hundreds of thousands of people to each donate $10 resulted in a huge influx of ALS funding).
 
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