Navigation Links
Linking Fragile X Syndrome proteins and RNA editing mistakes at nerve-muscle junction
Date:10/30/2011

PHILADELPHIA - The most common form of heritable cognitive impairment is Fragile X Syndrome, caused by mutation or malfunction of the FMR1 gene. Loss of FMR1 function is also the most common genetic cause of autism. Understanding how this gene works is vital to finding new treatments to help Fragile X patients and others.

Researchers from the Perelman School of Medicine at the University of Pennsylvania, and colleagues from Brown University, have identified the FMRP protein (encoded by FMR1) as a key player in RNA editing, a process in which the working copies made from DNA, called messenger RNAs, are chemically altered after being transcribed from the genome. Their findings were published online this week in Nature Neuroscience.

Since RNAs are used as the instructions to make proteins, mistakes in RNA editing at the neuromuscular junction (NMJ), the site at which motor neurons innervate muscle, may cause problems in nerve function. Previous work at Penn and several other institutions strongly suggested the role of FMRP to be in regulating the translation of certain types of RNA at the synapse, the space between two nerves, or between nerves and muscles.

"Most of the field has been focused on looking at FMRP interacting with specific RNAs and how it regulates their translation at the synapse," states lead author Thomas A. Jongens, PhD, associate professor of Genetics at Penn. "Here we've tapped into identifying a function that FMRP has in regulating another process called RNA editing that is important in regulating neural activity." In RNA editing, the information encoded by DNA into an RNA molecule is altered, thus affecting the functioning of the proteins encoded by that RNA.

"This work elegantly links the Drosophila FMR1 gene to both an RNA-editing pathway and the architecture of the neuromuscular junction synapse," says Donna Kransnewich, PhD, who oversees grants focused on mechanisms of human genetic dis
'/>"/>

Contact: Karen Kreeger
karen.kreeger@uphs.upenn.edu
215-349-5658
University of Pennsylvania School of Medicine
Source:Eurekalert  

Page: 1 2 3

Related medicine news :

1. Linking of mutations in 12 genes to ovarian cancer may lead to more effective prevention
2. Linking Pharmacies With Doctors Offices Can Improve Med Adherence: Study
3. Study linking gut microbe type with diet has implications for fighting GI disorders
4. Dissecting dyslexia: Linking reading to voice recognition
5. Doctor Behind Study Linking Vaccine to Autism Accused of Deliberate Fraud
6. Investigational eye treatment: Corneal collagen crosslinking research study
7. Experts explore emerging evidence linking diabetes and cancer
8. Blinking neurons give thoughts away
9. Researchers find further evidence linking Epstein-Barr virus and risk of multiple sclerosis
10. New clues found linking larger animals to colder climates
11. San Diego State University and BIOCOM Institute Receive $4.95 Million Grant: The BRIDGE Project, Linking Education to Employment in San Diegos Life Sciences Industry
Post Your Comments:
*Name:
*Comment:
*Email:
Related Image:
Linking Fragile X Syndrome proteins and RNA editing mistakes at nerve-muscle junction
(Date:12/24/2014)... (PRWEB) December 24, 2014 Risperdal lawsuit ... a mass tort litigation currently underway in Pennsylvania’s Philadelphia ... As of December 24, 2014, court documents indicate that ... behalf of individuals who developed gynecomastia (male breast growth) ... from the Court indicates that this represents an increase ...
(Date:12/24/2014)... Dr. Vu Ho, a Dallas based facial ... and med-spa with the addition of new Silk Peel ... treatments and services. , “Silk Peel is a procedure ... Ho. “As a result it can address issues like ... discolorations or blemishes.” , Similar to microdermabrasion, Silk ...
(Date:12/24/2014)... December 25, 2014 Today, UWDress.com, the famous ... sleeve wedding gowns, and launched a site-wide wedding gown promotion. ... sleeve wedding gowns in a more unexpected way, the collection ... are popular in the global market, and they are available ... UWDress.com are offered at discounted prices, up to 75% off; ...
(Date:12/24/2014)... Dallas, TX (PRWEB) December 25, 2014 ... Analysis to 2023” focuses on the current treatment landscape, ... colorectal cancer market. Stivarga is a drug which is ... This drug is orally administered and is also prescribed ... The drug which is FDA approved is a multi-kinase ...
(Date:12/24/2014)... (PRWEB) December 25, 2014 BambooIndustry.com a ... for many years. Today, the company announces its ... a special offer on these new products. , Bamboo ... renewable bamboo. The multiple layer bamboo panel board features ... both strong and emissions free. The bamboo panel consists ...
Breaking Medicine News(10 mins):Health News:Risperdal Lawsuits Continue to Climb, as Claims in Pennsylvania Litigation Exceed 1,180 Filings, Bernstein Liebhard LLP Reports 2Health News:Risperdal Lawsuits Continue to Climb, as Claims in Pennsylvania Litigation Exceed 1,180 Filings, Bernstein Liebhard LLP Reports 3Health News:Risperdal Lawsuits Continue to Climb, as Claims in Pennsylvania Litigation Exceed 1,180 Filings, Bernstein Liebhard LLP Reports 4Health News:Dr. Vu Ho Expands Facial Plastic Surgery Practice to Include New Skin Care Treatment 2Health News:Buy Cheap Long Sleeve Wedding Gowns At UWDress.com 2Health News:Stivarga Colorectal Cancer Treatment Market Analysis and Forecast to 2023 Report at RnRMarketReserach.com 2Health News:Stivarga Colorectal Cancer Treatment Market Analysis and Forecast to 2023 Report at RnRMarketReserach.com 3Health News:Bamboo Flooring Company Bambooindustry.com Introduces Its Multiple Layer Bamboo Panel Board Collection 2
... experts say, but safety concerns linger, , WEDNESDAY, Jan. ... oral, rather than injected -- may soon be available to ... online Jan. 20 in the New England Journal of ... cladribine -- reduce relapse rates in people with relapsing-remitting multiple ...
... Implications of Federal Medicare Cuts Require Careful Scrutiny and Consideration ... AUSTIN, Texas , Jan. 20 The ... Graves , today expressed concern about the growing cumulative pressure ... and protect Texas, most vulnerable nursing home residents. ...
... ... significantly higher risk of relapse attacks in patients with multiple sclerosis (MS) who develop the ... San Francisco. , ... 20, 2010 -- Low vitamin D blood levels are associated with a significantly higher ...
... ... market of medical silicone components. , ... Chicago, IL (PRWEB) January 20, 2010 -- Chicago-based medical silicone component manufacturer ... to market faster. , , , , ,FMI’s Rapid Development Program (RDP) is ...
... to Develop and Oversee Marketing and Strategic Partnership Initiatives ... WASHINGTON , Jan. 20 The Patient Advocate ... arbitration services to tens of thousands of patients every year ... of financial obstacles or insurance denials -- announced today the ...
... , ... to Haiti , Craig Juntunen , founder of Chances for Children, ... assist in a fresh renewal of the devastated nation of Haiti , ... Hole residents Lynn and Foster Friess augmented by a subsequent ...
Cached Medicine News:Health News:First Oral Medications For MS Show Promise 2Health News:First Oral Medications For MS Show Promise 3Health News:Texas Health Care Association: Meeting Texas Seniors' Ongoing Care Needs Threatened by Looming State, Federal Funding Threats 2Health News:Low Vitamin D Levels are Associated With Greater Risk of Relapse in Childhood-Onset Multiple Sclerosis 2Health News:Low Vitamin D Levels are Associated With Greater Risk of Relapse in Childhood-Onset Multiple Sclerosis 3Health News:Low Vitamin D Levels are Associated With Greater Risk of Relapse in Childhood-Onset Multiple Sclerosis 4Health News:FMI Introduces Rapid Development Program for Medical Silicone Components 2Health News:Patient Advocate Foundation Welcomes Former NASCAR Team Executive as New Executive Vice President of National Partnerships 2Health News:Patient Advocate Foundation Welcomes Former NASCAR Team Executive as New Executive Vice President of National Partnerships 3Health News:Chances for Children Launches 'Haiti Renewal Fund' With $2 Million From Foster Friess 2Health News:Chances for Children Launches 'Haiti Renewal Fund' With $2 Million From Foster Friess 3Health News:Chances for Children Launches 'Haiti Renewal Fund' With $2 Million From Foster Friess 4
(Date:12/24/2014)... CHAPEL HILL, N.C. , Dec. 23, 2014 /PRNewswire/ ... marketplace success. As the key link between the medical ... will grow even more in the coming years as ... relationships. According to research by benchmarking ... and MSLs can gain an important edge is by ...
(Date:12/22/2014)... , Dec. 22, 2014 Apnea Sciences ( ... offices in Aliso Viejo , California.  ... to the tremendous growth and worldwide expansion, a new ... patented SnoreRx, the anti snore cure have exceeded our ... "We are now in 23 countries and will ...
(Date:12/22/2014)... --Research and Markets ( http://www.researchandmarkets.com/research/hmlfbq/investment ) ... Analysis of the US Medical Device Sector " ... http://photos.prnewswire.com/prnh/20130307/600769 This analysis ... identifies the key trends and rationale for undertaking ... and acquisitions. The study will be ...
Breaking Medicine Technology:Role of Medical Science Liaisons Evolving in Medical Device Sector 2Investment Analysis of the US Medical Device Sector 2
... 10, 2012 uVera Diagnostics has introduced the CR3 Keyless ... screening specimen cup provides several state-of-the-art features not available ... "This is revolutionary to the drug testing industry," said Rick ... designed for ease of use for both genders. The unique ...
...  - Agreement allows development for potential treatment of ... SHPGY ), the global specialty biopharmaceutical company, ... develop and market Resolor ® (prucalopride) in the ... N.V.  Terms of the agreement have not been disclosed. ...
Cached Medicine Technology:uVera Diagnostics Offers New Drug Screening Product 2Shire Acquires US Rights to Resolor(R) (prucalopride) 2Shire Acquires US Rights to Resolor(R) (prucalopride) 3Shire Acquires US Rights to Resolor(R) (prucalopride) 4
... the first intra-operative fluorescent imaging system ... the location of the coronary arteries ... coronary artery bypass procedures. ,The patented ... to view, record, replay, print, and ...
... When myocardial infarction is ... TROPT sensitive rapid assay allows ... marker troponin T from a ... qualitative result is available within ...
The Polygraf ID multi-parametric recorder works with POLYGRAM NET analysis software to create a unique interface that combines web-style navigation, graphical presentation and intuitive design to del...
... The White Sun light source offers the industry ... Kelvin color temperature at a lower price. A ... White Sun to be used with Olympus, Storz, ... light output LED and re-settable bulb timer. The ...
Medicine Products: