 |
|
CSHL shows correcting rna splicing may help treat spinal muscular atrophy
March 13, 2007Cold Spring Harbor, New York — RNA splicing antisense technology studied at Cold Spring Harbor Laboratory (CSHL) effectively corrected an mRNA splicing defect found in spinal muscular atrophy (SMA) patients, and is now ready to be tested in mouse models. "SMA patients who suffer from motor-neuron degeneration may benefit from our ability to correct the mRNA splicing defect that makes their SMN2 genes only partially functional," suggested CSHL Professor Adrian Krainer, Ph.D.
RNA splicing antisense technology allows researchers to influence the ultimate structure and function of proteins. Proteins are synthesized from instructions coded in the DNA through a multi-step process that includes RNA splicing. Information stored in the DNA of genes is transcribed into immature "pre-messenger RNAs" (pre-mRNAs), pre-mRNAs are then spliced into mature "messenger RNAs" (mRNAs), and finally, mRNAs are translated into proteins. In humans and most other organisms, the splicing process thus ensures proper protein production.
"Targeting the splicing process is a promising strategy for finding new medicines to treat SMA, and possibly other diseases," said Marcus Rhoades, Ph.D. of the National Institute of General Medical Sciences, which partially supported Krainer's research. "This work brings us one step closer to that goal."
The defect in SMN2 gene expression in SMA patients is at the level of pre-mRNA splicing, such that exon 7 tends to be left out of the mRNA that ultimately makes SMN protein. Several strategies have been pursued to increase the extent of exon 7 inclusion in the splicing of SMN2, for eventual use as therapeutics for SMA. The Krainer team, in collaboration with a team at Isis Pharmaceuticals, surveyed a large number of antisense oligonucleotides (ASOs) and found that some of these ASOs are able to correct the mRNA splicing defect in cultured cells from SMA patients. These powerful ASOs are identified by the Krainer team as viable for testing in mouse models - the next step in the process of developing new human therapies.
"Families and advocates are very pleased to see the advancement of this antisense technology for the treatment of spinal muscular atrophy. We have high hopes for the success of the next phase of the work", said Cynthia Joyce, Executive Director of the SMA Foundation, an advocacy group that provides financial support for this project at CSHL.
Cold Spring Harbor Laboratory
The defect in SMN2 gene expression in SMA patients is at the level of pre-mRNA splicing, such that exon 7 tends to be left out of the mRNA that ultimately makes SMN protein. Several strategies have been pursued to increase the extent of exon 7 inclusion in the splicing of SMN2, for eventual use as therapeutics for SMA. The Krainer team, in collaboration with a team at Isis Pharmaceuticals, surveyed a large number of antisense oligonucleotides (ASOs) and found that some of these ASOs are able to correct the mRNA splicing defect in cultured cells from SMA patients. These powerful ASOs are identified by the Krainer team as viable for testing in mouse models - the next step in the process of developing new human therapies.
"Families and advocates are very pleased to see the advancement of this antisense technology for the treatment of spinal muscular atrophy. We have high hopes for the success of the next phase of the work", said Cynthia Joyce, Executive Director of the SMA Foundation, an advocacy group that provides financial support for this project at CSHL.
Cold Spring Harbor Laboratory
Muscular Atrophy Current Events and Muscular Atrophy News RSSResearchers identify drug candidate for treating spinal muscular atrophy
A chemical cousin of the common antibiotic tetracycline might be useful in treating spinal muscular atrophy (SMA), a currently incurable disease that is the leading genetic cause of death in infants.
ISU researchers find possible treatment for Spinal Muscular Atrophy
Spinal Muscular Atrophy is the second-leading cause of infant mortality in the world.
UCLA stem cells scientists make electrically active motor neurons from iPS cells
Stem cells scientists at UCLA showed for the first time that human induced pluripotent stem (iPS) cells can be differentiated into electrically active motor neurons, a discovery that may aid in studying and treating neurological disorders.
MU logo News Bureau University of Missouri About the News Bureau Contact Us Home / News Releases / 2009 MU Researchers Discover Target that Could Ease Spinal Muscular Atrophy Symptoms
There is no cure for spinal muscular atrophy (SMA), a genetic disorder that causes the weakening of muscles and is the leading genetic cause of infant death, but University of Missouri researchers have discovered a new therapeutic target that improves deteriorating skeletal muscle tissue caused by SMA. The new therapy enhanced muscle strength, improved gross motor skills and increased the lifespan in a SMA model.
Patient-derived induced stem cells retain disease traits
hen neurons started dying in Clive Svendsen's lab dishes, he couldn't have been more pleased. The dying cells - the same type lost in patients with the devastating neurological disease spinal muscular atrophy - confirmed that the University of Wisconsin-Madison stem cell biologist had recreated the hallmarks of a genetic disorder in the lab, using stem cells derived from a patient.
Molecular Therapy for Spinal Muscular Atrophy Closer to Clinical Use
Spinal muscular atrophy, a neurodegenerative disorder that causes the weakening of muscles, is the leading cause of infant death and occurs in 1 in 6,000 live births.
Genetic test for spinal muscular atrophy should be offered to all couples, says the ACMG
Carrier screening for spinal muscular atrophy (SMA)-a serious genetic disease affecting approximately 1 in 10,000 infants that causes progressive muscle weakness and death-should be made available to all families, according to a new practice guideline issued by the American College of Medical Genetics (ACMG).
Penn researchers gain new insights on spinal muscular atrophy
Researchers from the University of Pennsylvania School of Medicine discovered that the effect of a protein deficiency, which is the basis of the neuromuscular disease spinal muscular atrophy (SMA), is not restricted to motor nerve cells, suggesting that SMA is a more general disorder.
Cold Spring Harbor Laboratory Scientists Devise Potential Approach To Treat Spinal Muscular Atrophy
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.
Treatment extends survival in mouse model of spinal muscular atrophy
Drug therapy can extend survival and improve movement in a mouse model of spinal muscular atrophy (SMA), new research shows. The study, carried out at the NIH's National Institute of Neurological Disorders and Stroke (NINDS), suggests that similar drugs might one day be useful for treating human SMA.
More Muscular Atrophy Current Events and Muscular Atrophy News Articles
 |
Spinal Muscular Atrophy - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers by Philip M. Parker (Author) In March 2001, the National Institutes of Health issued the following warning: "The number of Web sites offering health-related resources grows every day. Many sites provide valuable information, while others may have information that is unreliable or misleading." Furthermore, because of the rapid increase in Internet-based information, many hours can be wasted searching, selecting, and printing. Since only the smallest fraction of information dealing with spinal muscular atrophy is indexed in search engines, such as www.google.com or others, a non-systematic approach to Internet research can be not only time consuming, but also incomplete. This book was created for medical professionals, students, and members of the general public who want to conduct medical research using the most... |
 |
ABC News UpClose Spinal Muscular Atrophy Parents, who are running in a race against time to save their daughter's life, are told that the best thing they could do is to find someone famous who has the disease or, in the very least, is willing to be a spokesperson for it. Arya Singh has an awful disease called Spinal Muscular Atrophy, or SMA. Although most people have never heard of this disease, it's nearly as prevalent as Lou Gehrig's Disease or Cystic Fibrosis. But unlike many lethal diseases, scientists know what causes SMA and have a good idea of how to treat, if not cure it. With just a few more years and a lot more money, it may be a manageable illness. But right now, the money isn't there. And Arya Singh's and thousands of lives, mostly children's, hang in the... |
 |
Spinal Muscular Atrophy Awareness Ribbon Mouse Pad by MyHeritageWear.com The Spinal Muscular Atrophy Ribbon proudly displayed on a mouse pad. There is no better way to achieve awareness for the meaning of the Spinal Muscular Atrophy Ribbon than to display it on your mouse pad for everyone to see. The mouse pad measures at 9.25 x 7.75, it is machine washable, and the colors will not fade or run. Start gaining awareness today by presenting your Spinal Muscular Atrophy Ribbon mouse pad at work or at home. It is certain to keep your mouse rolling in style all while gaining support and awareness! |
 |
Impaired Mobility: Physical Consequences (Immobility, Preventing Complications) (Volume One) Also With: Concept Media (Primary Contributor) Describes alterations in body functions occurring with impaired mobility. Common problems such as muscular atrophy, fluid and electrolyte disturbances, disorders in blood clotting mechanisms, disuse osteoporosis, retained respiratory secretions, and urinary stasis are discussed along with their long-term negative impact on patient health. |
 |
Spinal Muscular Atrophy Medical Guide by Qontro Medical Guides (Author) The Spinal Muscular Atrophy Medical Guide is a publication which has been designed to better help readers understand Spinal Muscular Atrophy. This Qontro Medical Guide has been designed with the reader in mind, and is a useful information source for readers at all levels looking to learn more about Spinal Muscular Atrophy. The Spinal Muscular Atrophy Medical Guide is highly recommended for those interested in understanding and learning more about Spinal Muscular Atrophy. |
|
Spinal muscular atrophy: An entry from Thomson Gale's Gale Encyclopedia of Neurological Disorders by Borut, MD, PhD Peterlin (Author) Targeted to patients, their families and allied health students, The “Gale Encyclopedia of Neurological Disorders” provides in-depth coverage of neurological diseases and disorders, including stroke, multiple sclerosis, Parkinson disease, Tourette Syndrome, Alzheimer's disease, cerebral palsy, vertigo, amnesia and epilepsy. Related topics include communication aids, electric personal assistive mobility devices, medications for treating neurological diseases and conditions, understanding the needs of Alzheimer patient caregivers and more. This two-volume set provides an alternative to resources that either fail to explore neurological disease in any depth and or do so at a level not appropriate for students and general readers. | |
 |
Living with Spinal Muscular Atrophy: The True Story of Kassidy Jade Sears by Trina Allen (Author) Kassidy was born into the world just months prior to the soon to be roller-coaster ride her young parents would face. Kassidy was the only child and the only grandchild at this time, which seemed healthy and happy. Such devastating news would soon follow the day she turned three months old. The strength and courage that Kassidy had will never be forgotten. The love that this little girl had for her mommy and the love that her mommy had for her will always be remembered. The question we all asked "Why God? Why us? Why our Kassidy?" a question that we still ask today and will for years to come. |
|
Progressive Spinal Muscular Atrophies (The International Review of Child Neurology) by Ingrid Gamstorp (Author) | |
|
Nutrition issues associated with spinal muscular atrophy. (Review).: An article from: Nutrition & Dietetics: The Journal of the Dieticians Association of Australia by Sarah Leighton (Author) This digital document is an article from Nutrition & Dietetics: The Journal of the Dieticians Association of Australia, published by Thomson Gale on June 1, 2003. The length of the article is 4286 words. The page length shown above is based on a typical 300-word page. The article is delivered in HTML format and is available in your Amazon.com Digital Locker immediately after purchase. You can view it with any web browser. Citation Details Title: Nutrition issues associated with spinal muscular atrophy. (Review). Author: Sarah Leighton Publication: Nutrition & Dietetics: The Journal of the Dieticians Association of Australia (Magazine/Journal) Date: June 1, 2003 Publisher: Thomson Gale Volume: 60 Issue: 2 Page: 92(5) Distributed by Thomson... | |
 |
The Official Parent's Sourcebook on Spinal Muscular Atrophy: A Revised and Updated Directory for the Internet Age by Icon Health Publications (Author) This book has been created for parents who have decided to make education and research an integral part of the treatment process. Although it also gives information useful to doctors, caregivers and other health professionals, it tells parents where and how to look for information covering virtually all topics related to spinal muscular atrophy (also Infantile Spinal Muscular Atrophy, Type I; Juvenile Spinal Muscular Atrophy Type III; SMA, Infantile Acute Form; Spinal Muscular Atrophy Type I; Spinal Muscular Atrophy Type III; Werdnig-Hoffman Paralysis), from the essentials to the most advanced areas of research. The title of this book includes the word official. This reflects the fact that the sourcebook draws from public, academic, government, and peer-reviewed research. Selected... |
| © 2009 BrightSurf.com |