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:12/22/2014)... 22, 2014 Research and Markets ... addition of the "The Global Watermarking ... offering. http://photos.prnewswire.com/prnh/20130307/600769 ... overview of the global digital media watermarking ... and monitor piracy by securely and invisibly ...
(Date:12/19/2014)... , Dec. 18, 2014  23andMe, Inc., the leading ... study that pinpoints fine-scale differences in genetic ancestry of ... . Since immigrants first arrived more than ... has served as a meeting place for ... history and the ongoing mixing of peoples with African, ...
(Date:12/17/2014)... , Dec. 15, 2014  HITLAB SM ... Clinical Practices (GCP) audit to confirm its adherence ... regulations. This accomplishment enables HITLAB to conduct regulated ... the highest principles for patient safety and research ... global healthcare access, quality, and delivery with innovative ...
Breaking Biology News(10 mins):The Global Watermarking and Fingerprinting Markets 223andMe Study Sketches Genetic Portrait of the United States 223andMe Study Sketches Genetic Portrait of the United States 323andMe Study Sketches Genetic Portrait of the United States 4HITLAB Completes GCP Audit for FDA Smart Device & App Compliance 2
... Upton, NY -- An international team of researchers from ... the genomes of two important laboratory strains of E. ... other to produce proteins for basic research or practical applications. ... open a window to a deeper understanding of classical research ...
... 20, 2009Doctor of the Heart: My Life in Medicine ... best-selling author, and popular television commentator. Published by Mary ... account of his long and extraordinary career ( www.liebertpub.com/heart ... often referred to as "America,s Doctor." "Through his works ...
... disease for which there,s a proven cure, but nobody makes ... many around the world face every day and one Rice ... Internet. The Cure for Needy Project ( http://www.cureforneedy.org ... optimize small-molecule medications for orphaned diseases those for which ...
Cached Biology News:Genomes of 2 popular research strains of E. coli sequenced 2Genomes of 2 popular research strains of E. coli sequenced 3Just published: 'Doctor of the Heart: My Life in Medicine,' by Isadore Rosenfeld, M.D. 2Rice opens 'Cure for Needy' on the Web 2Rice opens 'Cure for Needy' on the Web 3
(Date:12/24/2014)... SPRING, Md. , Dec. 24, 2014 /PRNewswire/ ... announced today that Medtronic, Inc. (NYSE: ... to the U.S. Food and Drug Administration (FDA) ... II implantable drug infusion system (including a newly ... ® (treprostinil) Injection delivered intravenously to patients ...
(Date:12/24/2014)... 24, 2014  Vermillion, Inc. (Nasdaq:   VRML), ... announced today that the Company closed its previously ... Management, Jack W. Schuler , Birchview Fund ... $10.5 million, before offering expenses.  The proceeds will ... purposes. Under the terms of the ...
(Date:12/24/2014)... “Preparative & Process Chromatography Market by ... Solvents, Buffers, Valves, Guages, Seals), Accessories, Services, End ... to 2019” provides a detailed overview of the ... and strategies impacting the preparative and process chromatography ... the revenue and share analysis. , Full ...
(Date:12/24/2014)... 23, 2014 Earlier this year in ... Sherley, director of the Adult Stem Cell Technology Center, ... overlooked and under appreciated unique property of adult tissue ... Stem Cells: Misunderstood in the Past, Important for the ... participants. He gave the address at the 4th ...
Breaking Biology Technology:United Therapeutics Announces Submission Of Pre-Market Approval Application For Implantable Drug Infusion System To Deliver Remodulin 2United Therapeutics Announces Submission Of Pre-Market Approval Application For Implantable Drug Infusion System To Deliver Remodulin 3United Therapeutics Announces Submission Of Pre-Market Approval Application For Implantable Drug Infusion System To Deliver Remodulin 4Vermillion Announces Closing of Equity Financing 2Vermillion Announces Closing of Equity Financing 3Preparative and Process Chromatography Market is expected to reach $9 billion by 2019 - New Report by Marketsandmarkets 2Preparative and Process Chromatography Market is expected to reach $9 billion by 2019 - New Report by Marketsandmarkets 3Preparative and Process Chromatography Market is expected to reach $9 billion by 2019 - New Report by Marketsandmarkets 4Adult Stem Cell Technology Center, LLC’s Director Sherley's Address on What’s Holding Back Regenerative Medicine Featured on Omics Group Website 2Adult Stem Cell Technology Center, LLC’s Director Sherley's Address on What’s Holding Back Regenerative Medicine Featured on Omics Group Website 3Adult Stem Cell Technology Center, LLC’s Director Sherley's Address on What’s Holding Back Regenerative Medicine Featured on Omics Group Website 4
... , COLUMBIA, Md., Aug. 19 Martek Biosciences Corporation ... results of its third quarter of fiscal 2009 on September 2, 2009, ... 4:45 p.m. ET Martek will conduct a conference call to discuss these ... live via webcast by visiting Martek,s web site at http://investors.martek.c ...
... , , , , ... WASHINGTON, Aug.19 A scholarly analysis of the keystone of indirect ... science fell far short of acceptable scientific standards. Professor John Mathews and ... exhaustive analysis of Searchinger et al. which revealed that the ...
... LAFAYETTE, Ind. - Researchers are adapting the same methods ... beams for a new class of "nanolithography" required to ... light to create the fine features in computer chips ... image of a mask onto a light-sensitive material, then ...
Cached Biology Technology:Analysis of Biofuels Indirect Land Use Effects Finds the Science Lacking: 'Too Diffuse and Subject To Too Many Arbitrary Assumptions To Be Useful for Rule-making.' 2Analysis of Biofuels Indirect Land Use Effects Finds the Science Lacking: 'Too Diffuse and Subject To Too Many Arbitrary Assumptions To Be Useful for Rule-making.' 3Nuclear fusion research key to advancing computer chips 2Nuclear fusion research key to advancing computer chips 3
Fluorescein-CSCSSLMDKECVYFCHLDIIW (Disulfide bridge: 1-15 and 3-11)...
... for isolation and affinity purification of ... peptides. Hydrophobic, monodisperse magnetic particles (2.8 ... groups, further surface activation is not ... with optimal orientation for affinity purification ...
VMAT 2 (N-19)...
Neuropilin-2 Purified Anti-Rat clone 54, Isotype Mouse IgG 1 , 150 µg Consult technical datasheet for details....
Biology Products: