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New Protein May Reverse Neurodegenerative Diseases
25 Feb 2009

An investigational protein that transformed normal laboratory mice into super-jocks holds great promise in developing new treatments for neurodegenerative diseases like Parkinson's, Alzheimer's and ALS (Lou Gehrig's Disease), say researchers at the University of Virginia Health System.

A study published in the February 17, 2009 online edition of Mitochondrion reports that the protein, rhTFAM (an abbreviation for recombinant-human mitochondrial transcription factor A), succeeded in entering and energizing the DNA of the mice's mitochondria, enabling them to run two times longer on their rotating rods than a control group cohort.

Because many neurodegenerative diseases cause mitochondria to malfunction, medical researchers have been focusing on developing methods for repairing and restoring them. The new UVA study represents an important step toward achieving that goal. It shows that a naturally occurring protein, TFAM, can be engineered to rapidly pass through cell membranes and target mitochondria. Study findings show that rhTFAM acts on cultured cells carrying a mitochondrial DNA disease as well as lab mice.

Conducted in conjunction with Gencia Corporation, a Charlottesville-based biotechnology firm that owns rhTFAM, the study also describes a scalable method of producing the protein in needed quantities.

Mitochondria are the cellular engines that transform food into fuel in our bodies and perform their work in the energy-intensive tissue of our brains, retinas, hearts and skeletal muscles. When damaged, mitochondria slow down, stop generating energy effectively and begin to over-produce oxygen free radicals. If produced in excess, oxygen free radicals chemically attack all cell components, including proteins, DNA and lipids in cell membranes.

"In simple terms, an overabundance of these free radicals cause cells to start rusting," notes lead study author James P. Bennett, Jr., M.D., PhD, a professor of neurology and psychiatric research at the UVA School of Medicine and director of its Center for the Study of Neurodegenerative Diseases.

While the UVA findings are preliminary, Bennett considers them encouraging. "We've shown that the human mitochondrial genome can be manipulated from outside the cell to change expression and increase mitochondrial energy production," he notes. "This is arguably the most essential physiological role of the mitochondria."

Although important questions remain about the technology, mechanisms and therapeutic potential of rhTFAM, Bennett believes his team's findings could contribute to the development of treatments that repair and restore damaged mitochondria in cells. "We're looking toward the day when we can reverse or delay the progression of various neurodegenerative diseases and other conditions where cell energy production is deficient, including cancer, diabetes and aging," he says.

Gencia made rhTFAM available to UVA under a material transfer agreement. One study author, Francisco R. Portell, has an affiliation with the company.

Study authors also include Shilpa Iyer, Ravindar R. Thomas, Lisa D. Dunham and Caitlin K. Quigley. All work at the Center for the Study of Neurodegenerative Diseases and the Morris K. Udall Parkinson's Disease Research Center of Excellence at UVA.

University of Virginia Health System
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VA 22908-0795
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http://www.healthsystem.virginia.edu
 

Jennifer51

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keep the good news flowing...thanks a lot. I for one want to see more of this
 

Big Mike

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Very good news indeed!

It seems like there's good news coming just about everyday regarding ALS research. Now, if they can just start formulating the research into actual treatments, and expedite the clinical trial process, it will be really exciting!
 

AHands

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i think this is the same dr. bennett that is doing the (r+)pramipexole work?
 

brendapals

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I got this email today!

Breaking News

New Gene Mutation Discovery by ALS Association
Consortium is Major Research Breakthrough
(February 26, 2009) - In one of the most significant breakthroughs in the recent history of ALS research, a consortium of scientists organized and funded by The ALS Association has discovered a new gene, ALS6 (Fused in Sarcoma), responsible for about 5 percent of the cases of inherited ALS. The discovery will provide important clues to the causes of inherited ALS, which accounts for 10 percent of all cases, and sporadic ALS, which occurs in individuals with no family history of the disease and accounts for the other 90 percent of cases diagnosed.

“This is a momentous discovery in furthering our understanding of ALS,” said Lucie Bruijn, Ph.D., senior vice president of Research and Development at The ALS Association. “A new gene provides a new piece of the puzzle we can use to shed light on why ALS develops, and where to focus our efforts on creating new treatments and finding a cure.”

The results of this groundbreaking research are published in the Friday, February 27 issue of the prestigious journal Science. The project was led by Tom Kwiatkowski M.D., Ph.D., at Massachusetts General Hospital, and Robert Brown, M.D., of the University of Massachusetts School of Medicine, and ALS Association-funded researchers Caroline Vance, Ph.D., and Christopher Shaw, M.D., of Kings College in London. The project was supported by a consortium of leading ALS researchers from around the world, formed as part of The Association’s Gene Identification Project. Their success reflects an unprecedented effort to accelerate the search for genetic mutations linked to all forms of ALS.

Dr. Brown noted, “We are particularly delighted because our trans-Atlantic consortium has pursued the chromosome 16 gene for more than six years. The ALS Association has been an all-important partner in this search. This discovery should lead to new cell and animal models of ALS, which will accelerate drug development.”

“Global partnerships between investigators and funding agencies, such as the Motor Neuron Disease Association in the United Kingdom, are crucial to making these kinds of breakthroughs,” Dr. Bruijn commented. “This finding has opened up a whole new avenue of research and has the potential to uncover a common mechanism for most forms of ALS.”

The gene mutations were first identified by Dr. Kwiatkowski and were immediately confirmed by Dr. Vance, who also demonstrated abnormal accumulations of the mutant protein in cells cultured in the laboratory and the motor neurons of people carrying FUS mutations.

The gene, called FUS (“fused in sarcoma”), normally carries out multiple functions within motor neurons. These include regulating how gene messages (called messenger RNAs) are created, modified, and transported in order to build proteins. Some of these same functions also are performed by another gene called TARDPB encoding the protein TDP43, and mutations in the TDP-43 gene were recently linked to ALS as well.

“The fact that these two genes help perform the same function suggests that problems in this function may be critical in the development of ALS,” Dr. Bruijn said. “More research into exactly how these two genes work could ultimately lead to new treatments that are effective in slowing or stopping the progression of ALS and extending the lives of people with the disease.”

The mutations in the ALS6 gene were identified by detailed genetic sequencing in several families with an inherited form of ALS (familial ALS). Normally, the ALS6 protein works in the cell’s nucleus, but the mutations caused it to instead cluster outside the nucleus. Further work will be needed to determine precisely how this leads to ALS. With the gene in hand, scientists will be able to create cell and animal models containing the mutated gene, to examine in detail how the mutation operates and how it causes ALS.

“This suggests there may be a common mechanism underlying motor neuron degeneration,” according to Dr. Shaw. Motor neurons are nerve cells in the brain and spinal cord that control muscles. Motor neurons degenerate in ALS.

This is the second ALS-causing gene to be discovered in the past 12 months. SOD1, discovered in 1993, accounts for 20 percent of inherited cases of the disease. Mutations in the TARDP gene account for another four to five percent. The only well-defined causes of ALS are genetic. In both inherited and sporadic ALS, the disease symptoms and pathology are the same.

The possibility that ALS may be caused by several factors is the rationale for The Association’s policy of funding multiple genetic projects around the world and encouraging these leading geneticists to work together and share information to help locate disease-linked genes for faster, more accurate scientific results. By funding research on a global level, The Association helps put together “genetic pieces” of the ALS puzzle.

“Through our support of research such as this study, The ALS Association is committed to finding the causes of ALS, and using that knowledge to develop a cure as rapidly as possible,” Dr. Bruijn said. “We will build on the discovery of this new gene to carry that effort forward.”





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glenn gavanaugh

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awesome.
Big Mike has the right idea here!

still good news!
 

glenn gavanaugh

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also, out of curiousity (again, excuse my ignorance here...) - has there been more research & developments in the past year than ever before? It just seems like new developments every week...!

Are they really inching nearer? or is this the same ol' S***? "business as usual" blah blah?

Because if not, and this is a new trend, then wow, wow. A new frontier indeed.

Like Big Mike said - research into treatments, clinical trials & expedience, expedience, expedience.

Also I hope I don't sound mental or anything, considering my mini-essay of defeatist attitude I posted yesterday. I'm really new to this, and I'm truly starting to believe (and always trying to hold hope for you people, and anyone with any form of MND). And I'm emotionally-fluctuating, true, true.
I really cross my fingers here. I hope this tranfers into something concrete and applicable to the public.
People are becoming more aware, this is an awesome thing.
 

Jennifer51

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Glenn ...I have only been heavily involved in monitoring what is going on since I was DX, (1 year) although we were quite aware of the disease for the past 3 years as we have known several other people with it...BUT it does seem to me that there is a lot more going on now, from all the links I have seen, and posted on this forum, and those which countless others have posted. I also get the quarterly magazine from the UK mnd association, and that is often full to brim with encouraging news. We know about a new charity in the uk that has recently got into research, and there are several hospitals who now have a great deal to do with stem cell research for all kinds of ailments. The mnd assoc have just asked members if they wish to be put on a list for potential trials/treatments...so I would say it is looking more encouraging, and things do seem to be speeding up...just go into top gear please.
 

glenn gavanaugh

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top gear indeed.
I hope that a special emphasis is put on MND, as there hasn't even been significant treatments...like c'mon Science... anything to even slow the progression. Hope.
 

Jennifer51

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Yet more signs of hope

I cant believe it but....for ages I have been telling my husband that I must watch the news as one day it will be the turn of mnd (als) to make headlines...THEN TONIGHT IT HAPPENED...on one of the most respected news channels...tonight they had a small item about one of the most prestigious university hospitals and one of our top research neuros...they have found yet another gene responsible for mnd. Sorry I dont have a link about it. maybe it will be in print tomorrow. It is Prof Chris Shaw at Kings College London. It is not the news I really wanted but just another step in the right direction...another day another step, hopefully we can soon start running
 

glenn gavanaugh

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Yeah, that's the same information that brendapals posted - it's great that it's getting televised exposure! maybe this'll help increase the momentum...
 
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