Navigation Links
Cold Spring Harbor Laboratory scientists devise potential approach to treat spinal muscular atrophy
Date:4/4/2008

Cold Spring Harbor, NY In the neuromuscular disease called spinal muscular atrophy, or SMA, a protein deficiency caused by a single gene mutation leads to serious damage in growing nerve cells and the muscles they control.

Now, in laboratory experiments, researchers at Cold Spring Harbor Laboratory (CSHL) and Isis Pharmaceuticals have induced cells to replenish the protein by activating an existing, slightly modified copy of the mutant gene. These early results hold out hope for one day successfully treating this often-fatal disease.

SMA, which affects about one out of every 6,000 newborns, occurs when the baby inherits a defective version of a gene called SMN1 from both its mother and father. The protein that this gene produces performs cellular "housekeeping" activities, says CSHL professor Adrian Krainer, Ph.D., who led the research team, so "it's hard to explain why it matters more in motor neurons" that are afflicted by SMA than in other cells.

A Backup Copy

Some SMA patients are affected more profoundly than others, in part because a second version of the gene, SMN2, also produces the protein, and makes up for some of the deficit. "All these patients, although they're missing a critical gene, have this second gene that in healthy people is not necessary," says Dr. Krainer.

Over time, subtle mutations have arisen that make the second gene produce much less of the critical protein, even though it still has all of the pieces needed to make the final protein. Instead, the mutations trigger the cellular machinery to omit one major piece of the protein, without which it rapidly degrades.

Researchers have known for years that some sections of the genetic information are left out during the intricate process that ends in the production of protein. The first step of this process, which is called transcription, involves copying DNA into a strand of RNA. This RNA is then edited by special enzymes that
'/>"/>

Contact: Jim Bono
bono@cshl.edu
516-367-8455
Cold Spring Harbor Laboratory
Source:Eurekalert

Page: 1 2

Related biology news :

1. Cold Spring Harbor Protocols features methods to screen genomes and analyze evolution
2. Springer expands publishing partnership with the Biomedical Engineering Society
3. Warmer springs mean less snow, fewer flowers in the Rockies
4. Springer author Carlos M. Duarte awarded Spanish science prize
5. RNA-based methods for developmental studies are featured in Cold Spring Harbor Protocols
6. Cold Spring Harbor Laboratory to play central role addressing key questions in plant biology
7. Hot springs microbes hold key to dating sedimentary rocks, researchers say
8. Humana Press journals now available on SpringerLink
9. Cold Spring Harbor Laboratorys lung cancer research program awarded $100,000 grant
10. Springer launches Tropical Plant Biology
11. Moms obesity during conception phase may set the stage for offsprings obesity risk
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:4/10/2015)... , April 10, 2015 ... addition of the "Security Competitive Profiles - NEC" ... http://photos.prnewswire.com/prnh/20130307/600769) , NEC will continue to supply ... to the market, with a company focus on the ... anticipated. Winning opportunities in the ...
(Date:4/8/2015)... 8, 2015  Infinisource, a leading provider of SaaS-based ... Morpho, a leading supplier of biometric identification and ... market,s most advanced biometrically-enabled time clock, the companies ... clock is setting a bold, new standard for ... the small and mid-size employer. When connected to ...
(Date:4/2/2015)... , April 2, 2015 ... tests DERMALOG by far outperforms the strongest competitors, ... maintaining high accuracy, the system is capable of ... the speed proves up to be ten times ... than its runner-up performance.      (Photo: ...
Breaking Biology News(10 mins):NEC Security Competitive Profile 2015 2iSolved Time Clock Offers Unmatched Accuracy due to Morpho Biometrics 2iSolved Time Clock Offers Unmatched Accuracy due to Morpho Biometrics 3DERMALOG AFIS Emerges as Performance Winner in NIST Benchmark Test 2DERMALOG AFIS Emerges as Performance Winner in NIST Benchmark Test 3
... number, letter or other shape, neurons in various areas ... of that shape, almost instantaneously fitting them together like ... then "sees" and understands, researchers at The Johns Hopkins ... Krieger Mind/Brain Institute describes the complex but speedy process ...
... are among the most studied molecules in biochemistry. Understanding how ... has long been one of the grand challenges of biology. ... are confined by their environment, the more stable - or ... on the cover of the March issue of Biophysical Journal, ...
... I hate it too when there's no picture in this ... a molecule that plays a key role in activating the ... by researchers at the European Molecular Biology Laboratory (EMBL) and ... the Université Joseph Fourier and the CNRS, in Grenoble. , ...
Cached Biology News:In the mind's eye: How the brain makes a whole out of parts 2UW-Madison engineers squeeze secrets from proteins 2Waking a sleeping virus 2
(Date:5/21/2015)... -- Imagine being able to probe and ... others. Being able to read faces and enjoy genuine ... anticipate their thoughts and actions like never before. Use ... create unique abstract paintings and video, or, play a ... first-person-shooter as it creates action, dialog, and outcomes based ...
(Date:5/21/2015)... Bridgewater, NJ (PRWEB) May 21, 2015 ... and a method for diagnostic or therapeutic imaging within ... the apparatus uses an endoscope having a low cost, ... original USPTO filing date was October 18, 2013 and ... The technology enables the physician to customize the ...
(Date:5/21/2015)... May 21, 2015 As part of ... Center (BDWMC), Sun Health Foundation funded a $3.25 million ... inpatient pharmacy with the most up-to-date features and technology. ... 2. The pharmacy's 45 staff members will begin moving ... space in the coming days. , The current ...
(Date:5/21/2015)... 2015 /PRNewswire/ - RepliCel Life Sciences Inc. (TSX.V: ... company focused on the development of autologous cell ... the International Society for Cellular Therapy (ISCT) on ... currently in a Phase 1/2 clinical trial.  The ... from 5:30 PM to 7:00 PM local time, ...
Breaking Biology Technology:5 Days to Meet ARGUS - The World's First Contactless Emotions Scanner 2IpAuctions™ Presents The Worlds Smallest Disposable Illuminated Endoscope For Auction 2IpAuctions™ Presents The Worlds Smallest Disposable Illuminated Endoscope For Auction 3Sun Health Foundation Provides $3.25M to Expand, Relocate Banner Del E. Webb Medical Center Pharmacy 2Sun Health Foundation Provides $3.25M to Expand, Relocate Banner Del E. Webb Medical Center Pharmacy 3RepliCel to Present Unique Autologous Cell Treatment for Achilles Tendinosis at International Society for Cellular Therapy Conference 2RepliCel to Present Unique Autologous Cell Treatment for Achilles Tendinosis at International Society for Cellular Therapy Conference 3
... LOS ANGELES, Jan. 26 De Novo Software(TM), a ... today an agreement with BD Biosciences to sell De ... customers in clinical, research and pharmaceutical markets worldwide. BD ... is a pioneer and leader in flow cytometry systems ...
... Jan. 26 MaxCyte, Inc., the pioneer in ... presentation of the MaxCyte(R) STX(TM) Scalable Transfection System ... a joint program of the Association for Laboratory ... (LRIG). The Rapid Fire Innovation Session showcases the ...
... - Caliper Expands Genomics Product Suite and Addresses ... Caliper Life Sciences, Inc. (Nasdaq: CALP ... for drug discovery and life sciences research, today ... yet powerful automation solution for molecular biology applications. ...
Cached Biology Technology:BD Biosciences to Distribute FCS Express 2The MaxCyte(R) STX(TM) Scalable Transfection System to be Presented at the Rapid Fire Innovation Session at LabAutomation2009 2Caliper Life Sciences Introduces Zephyr Genomics Workstation for Automated Liquid Handling 2Caliper Life Sciences Introduces Zephyr Genomics Workstation for Automated Liquid Handling 3
... 96 Well BAC Prep; Ideal ... from 1.5ml 2xYT cultures; Provides ... fluorescent sequencing for small to ... strategy which minimizes shearing and ...
... Well BAC Prep; Ideal for ... 1.5ml 2xYT cultures; Provides high-quality ... sequencing for small to large ... which minimizes shearing and improves ...
Chicken polyclonal to Thaumatin 2 ( Abpromise for all tested applications). Antigen: Full length Thaumatin 2...
Rabbit polyclonal to hCG ( Abpromise for all tested applications). entrezGeneID: 1081 SwissProtID: P01215...
Biology Products: