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WHY THE NEW GENE FINDINGS ARE A CALL TO ACTION - A PACKARD PERSPECTI   Message List  
Reply | Forward Message #134 of 171 |
Re: WHY THE NEW GENE FINDINGS ARE A CALL TO ACTION - A PACKARD PERSPECTIVE

Hi Lalit.
Hows ur Father doing now?

Feel free to call me if you need any info or help.

You can email Gopal on gokeda@...

I haven't spoken to him since a while now.

Cheers.
G


--- In ALS_India@yahoogroups.com, Lalit Kumar <lalitgupta907@...> wrote:
>
> hello gaurav bhaiya
> Do you know any thing about gopal's mother...one thing i want to know once
> gopal told me about his neighbour in canada that the person was able to cure
> his wife from MND by giving injection of l-carnitine...Do u know any thing
> about this context???????Also do u have any phone no 4 contacting him...
> want to know about that lady who was able to cure 4m this prob.....can u do
> any help regardig this....If gopal got this mail kindly respond me..
>
> thanx
>
> lalit
>
>
> On 3/5/09, gauravjain_80 <gauravjain_80@...> wrote:
> >
> > WHY THE NEW GENE FINDINGS ARE A CALL TO ACTION - A PACKARD PERSPECTIVE
> > http://www.alscenter.org/news/briefs/090304.cfm
> >
> > In 2003, when New England ALS scientists announced they'd discovered
> > another form of familial ALS - the sixth one, and an adult form that
> > seems to strike harder in the lower extremities and have a somewhat
> > faster course - the hope was that the gene for it would soon surface.
> >
> > High excitement in the ALS research community always accompanies
> > finding a new gene: Perhaps this one holds clues to reveal what triggers
> > motor neuron death; perhaps this one will spark a really effective
> > therapy.
> >
> > Last week, after a six-year search, the gene was announced by seasoned
> > collaborators at the University of Massachusetts and Massachusetts
> > General Hospital. Another research team at King's College in London
> > backed up the finding. Found where they'd suspected it, on chromosome
> > 16, the mutated FUS gene (for "fused in sarcoma") is responsible for
> > perhaps 5 percent of familial ALS. And pinpointing it, after a long,
> > thorough search, would be news enough.
> >
> > But this discovery appears to go beyond the usual. Packard scientists
> > warmly welcome the appearance of m(for mutated) FUS for a key reason: It
> > lends clout to a theory about a major destructive process in ALS that's
> > been gathering evidence at the Packard Center and elsewhere more than a
> > decade.
> >
> > "The fascinating thing about having the FUS gene linked to ALS," says
> > Packard Scientific Director Piera Pasinelli, "is that it's yet another
> > gene that plays a part in RNA processing."
> >
> > And having successful functioning of that molecule is crucial for cells
> > to work normally. By way of background: RNA - specifically the messenger
> > RNA molecule - carries DNA's blueprint for assembling proteins into the
> > cell cytoplasm where their actual assembly occurs. Yet getting RNA to
> > reflect DNA's "message" accurately, modifying it for efficiency and then
> > transporting it from the cell nucleus to the cytoplasm is an involved,
> > multi-step process. And it's a one that can go awry.
> >
> > In 1998, Packard scientists first published the find that some 65
> > percent ALS patients harbor abnormal messenger RNA molecules,
> > specifically in the injured parts of their central nervous systems. But
> > no one has known the cause of that or what, if any, part it plays in
> > ALS's downhill course.
> >
> > More evidence: Not long ago, Packard researchers helped discover the
> > familial ALS4 gene, one for an abnormal form of a protein called
> > senataxin. Like FUS, the senataxin gene also has an RNA role, overseeing
> > proper production of messenger RNA from its DNA blueprint.
> >
> > And last year, the King's College group showed mutations in yet another
> > gene - one called TDP-43 - that appears both in patients with a variety
> > of different familial ALS types and, amazingly, in sporadic ALS patients
> > as well. Healthy people lack these mutations. (Last week, Packard
> > scientist Wim Robberecht and his European team added to that,
> > discovering a new variation of the TDP-gene in familial ALS patients.)
> > *
> >
> > Among TDP-43's list of accomplishments? RNA processing.
> >
> > All this suggests that flawed RNA metabolism, then, may join ALS's
> > seven "ugly stepsisters," as another of the biological pathways to go
> > wrong in ALS. (In scientific terms, the seven stepsisters are: oxidative
> > damage, misfolded protein aggregates, dysfunctional mitochondria,
> > defects in motor neuron transport, growth factor deficiency, pathology
> > of glial cells, glutamate excitotoxicity.)
> >
> > What has Packard scientists most engaged, however, is where the flawed
> > RNA metabolism could lead. It's interesting, for example, that both
> > patients with ALS from mTDP-43 and those with ALS from mFUS appear to
> > show clumps of misfolded proteins - protein aggregates - in central
> > nervous system cells, early in the disease. "This suggests that these
> > aggregates are key agents, that they participate early in the genesis of
> > ALS," says Packard scientist Phil Wong, who has just made a mouse model
> > of ALS using a mutant TDP-43 gene.
> >
> > So an important next step, both for understanding and for therapy, Wong
> > says, is to "see whether these aggregates are indeed critical players or
> > if, instead, they're just `tombstones' that mark dying motor neurons."
> > His mouse model should help answer that question.
> >
> > In this, the new "stepsister" may be the most useful. Because it shows
> > up in both familial and sporadic patients, some researchers are even
> > speculating that RNA gone awry may be the missing overarching principle
> > that tells how the stepsisters are related. In other words, some are
> > hoping it may be the key process that causes ALS.
> >
> > "The new discoveries, we believe, point strongly to flawed RNA
> > metabolism as a key disease process to imitate in animal models for
> > ALS," says Rothstein.
> >
> > "It's these tools - the gene-primed model mice and fish and fruit flies
> > that Packard scientists offer the world's research community - that will
> > enable us to understand ALS. Ultimately, they'll become the agents we'll
> > all use to find effective therapies."
> >
> > *Robberecht is already busy making a zebrafish model of ALS using
> > mutant TDP-43. His Packard colleague J. Paul Taylor, has begun testing a
> > new TDP-43 fruit fly model.
> >
> > ___________________________________
> >
> > About The Robert Packard Center for ALS Research at Johns Hopkins
> > www.alscenter.org
> >
> > Located in Baltimore, the Robert Packard Center for ALS Research at
> > Johns Hopkins is a worldwide collaboration of scientists aimed at
> > developing therapies and a cure for amyotrophic lateral sclerosis (ALS),
> > also known as Lou Gehrig's disease.
> >
> > The Center is the only institution of its kind dedicated solely to the
> > disease. Its research is meant to translate rapidly from the lab bench
> > to the clinic, largely by eliminating time spent waiting for grants and
> > lowering institutional barriers to sharing scientific results.
> >
> > Scientists and clinician members of the Packard Center have moved drugs
> > reliably and rapidly from preclinical experiments to human trials.
> > Direct or indirect links to international biotech or pharmaceutical
> > companies bring the infrastructure and experience needed to make
> > promising drugs into therapies.
> >
> > Packard scientists are the first to propose and test a combination
> > approach to drug therapy, a tactic that has worked for AIDS, cancer and
> > other diseases.
> >
> > ALS is a progressive, disabling neuromuscular disease that causes
> > complete paralysis and loss of function - including the ability to eat,
> > speak and breathe. ALS progresses quickly and is not curable. Most
> > patients die within five years of diagnosis.
> >
> > _________________________________________
> > Rebecca Berger
> > Research Program Coordinator
> > Robert Packard Center for ALS Research at Johns Hopkins
> > 5801 Smith Avenue | McAuley Suite 110
> > Baltimore, MD 21209
> > 410.735.7678 direct
> > 410.735.7680 fax
> > rberger6@... <rberger6%40jhmi.edu>
> > www.alscenter.org
> > www.fiesta5K.org <http://www.fiesta5k.org/>
> >
> >
> >
>





Sat Mar 7, 2009 7:37 am

gauravjain_80
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Message #134 of 171 |
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WHY THE NEW GENE FINDINGS ARE A CALL TO ACTION - A PACKARD PERSPECTIVE http://www.alscenter.org/news/briefs/090304.cfm In 2003, when New England ALS scientists...
gauravjain_80
Offline Send Email
Mar 5, 2009
5:09 am

hello gaurav bhaiya Do you know any thing about gopal's mother...one thing i want to know once gopal told me about his neighbour in canada that the person was...
Lalit Kumar
lalit_gupta907
Offline Send Email
Mar 7, 2009
6:50 am

Hi Lalit. Hows ur Father doing now? Feel free to call me if you need any info or help. You can email Gopal on gokeda@... I haven't spoken to him since a...
gauravjain_80
Offline Send Email
Mar 7, 2009
7:42 am
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