Navigation Links
2 genetic wrongs make a biochemical right
Date:10/20/2013

WORCESTER, MA In a biological quirk that promises to provide researchers with a new approach for studying and potentially treating Fragile X syndrome, scientists at the University of Massachusetts Medical School (UMMS) have shown that knocking out a gene important for messenger RNA (mRNA) translation in neurons restores memory deficits and reduces behavioral symptoms in a mouse model of a prevalent human neurological disease. These results, published today in Nature Medicine, suggest that the prime cause of the Fragile X syndrome may be a translational imbalance that results in elevated protein production in the brain. Restoration of this balance may be necessary for normal neurological function.

"Biology works in strange ways," said Joel Richter, PhD, professor of molecular medicine at UMMS and senior author on the study. "We corrected one genetic mutation with another, which in effect showed that two wrongs make a right. Mutations in each gene result in impaired brain function, but in our studies, we found that mutations in both genes result in normal brain function. This sounds counter-intuitive, but in this case that seems to be what has happened."

Fragile X syndrome, the most common form of inherited mental retardation and the most frequent single-gene cause of autism, is a genetic condition resulting from a CGG repeat expansion in the DNA sequence of the Fragile X (Fmr1) gene required for normal neurological development. People with Fragile X suffer from intellectual disability as well as behavioral and learning challenges. Depending on the length of the CGG repeat, intellectual disabilities can range from mild to severe.

While scientists have identified the genetic mutation that causes Fragile X, on a molecular level they still don't know much about how the disease works or what precisely goes wrong in the brain as a result. What is known is that the Fmr1 gene codes for the Fragile X protein (FMRP). This protein proba
'/>"/>

Contact: Jim Fessenden
james.fessenden@umassmed.edu
508-856-2000
University of Massachusetts Medical School
Source:Eurekalert

Page: 1 2 3 4

Related biology news :

1. Babcock Genetics Launches Breed Select Program
2. New genetic discovery could reduce the guesswork in drug dosing
3. What makes us left or right handed? New study rules out strong genetic factors
4. Epigenetic changes observed in blood may point to early stages in Parkinson disease
5. Notre Dame paper sheds light on genetic and physiological basis for metabolic diseases
6. Genetics in Medicine publishes special issue dedicated to genomics in electronic health records
7. JScreen public health initiative launches to fight Jewish genetic diseases
8. Functional genetic variation in humans: Comprehensive map published
9. Better sharing of genetic information in human health
10. African-American study identifies 4 genetic variants associated with blood pressure
11. Early-onset Parkinsons disease linked to genetic deletion
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:10/29/2014)... the international Cancer Genomics of the Kidney consortium ... kidney cancer and exposure to aristolochic acid, an ... in Nature Communications , have important implications ... than 140,000 people every year, and in Central ... part of the International Cancer Genome Consortium (ICGC), ...
(Date:10/28/2014)... Scientists from North America, Europe and China have published ... Academy of Sciences that reveals important details about ... our planet., From strange and exotic algae, mosses, ferns, ... the grains and vegetables we eat and the ornamental ... shares over a billion years of history., "Our study ...
(Date:10/28/2014)... Technological University Singapore (NTU Singapore) will be building ... renewable energy sources. , The first in the ... the integration of solar, wind, tidal-current, diesel, storage ... operate well together. , To be built under ... initiative, the hybrid micro-grid will be located offshore ...
Breaking Biology News(10 mins):Kidney cancer in Central Europe 2New study uses DNA sequences to look back in time at key events in plant evolution 2New study uses DNA sequences to look back in time at key events in plant evolution 3NTU to build region's first renewable energy integration demonstration micro-grid 2NTU to build region's first renewable energy integration demonstration micro-grid 3
... condition that can appear after breast cancer surgery, ... survivors. Although lymphedema can cause lifelong swelling in ... no national standard of diagnosis or care. Now, ... Lymphedema Framework Project (ALFP), a national, multi-disciplinary collaboration ...
... Inc. has obtained a non-exclusive license to make ... developed at Case Western Reserve University,s Department of ... Center in Cleveland. The ... based in Indiana, Pa., rights to intramuscular recording ...
... Food packaging and other disposable plastic items could soon be ... new sugar-based polymer. The degradable polymer is made ... crops such as fast-growing trees and grasses, or renewable biomass ... at Imperial College London by a team of Engineering and ...
Cached Biology News:Researchers develop standard of care for breast cancer survivors with lymphedema 2Compostable plastics have a sweet ending 2
(Date:10/30/2014)... (PRWEB) October 30, 2014 Whitehouse Laboratories ... its ICH Stability Testing and Package Test Capacity. Responding ... centers on a dramatic increase in environmental chamber storage ... stability, storage and aging samples to be securely held ... this major capital expenditure has already taken place with ...
(Date:10/30/2014)... 30, 2014 Isis Pharmaceuticals, Inc. (NASDAQ: ... management will present a company overview at the Nomura Biotechnology ... in Boston, MA. A ... "Investors & Media" section of the Company,s website, www.isispharm.com ... within 48 hours and will be archived for a limited ...
(Date:10/30/2014)... of the key challenges in the development of quantum ... , In a paper published today (28 October) in ... show how to make a new type of flexibly ... such as high-precision sensors and specialised superfast computers, often ... the methods for trapping these tiny particles are hugely ...
(Date:10/27/2014)... 2014 The new research report, ... & Medium), Sub-type (Primary & Secondary), and End-User ... Transportation & Power Generation) - Trends and Forecasts ... with analysis and forecasting of the market size. ... with 52 Figures spread through 146 Pages and ...
Breaking Biology Technology:Whitehouse Labs Announces Major Capital Investment in Stability and Storage Testing Capacity 2Whitehouse Labs Announces Major Capital Investment in Stability and Storage Testing Capacity 3Isis Pharmaceuticals to Present at the Nomura Biotechnology Conference 2Gas Insulated Switchgear Market worth $21,951.9 Million by 2019 - New Report by MarketsandMarkets 2Gas Insulated Switchgear Market worth $21,951.9 Million by 2019 - New Report by MarketsandMarkets 3Gas Insulated Switchgear Market worth $21,951.9 Million by 2019 - New Report by MarketsandMarkets 4
... July 15 Amsterdam,Molecular Therapeutics (Euronext: AMT), a ... announced the start of a collaboration with St. ... the development,of a gene therapy treatment for Hemophilia ... commercial rights to the final product. The,combination of ...
... A report published in the July 8 issue of ... Sciences ( PNAS ) is the first to ... of tiny nanoclusters of metallic gold. The study, which ... the work of researchers at four universities on two ...
... HealthSonix, Inc.,(Pink Sheets: HSXI)(FWB:H7S) today announced that ... purchased two wholly owned,subsidiaries of HealthSonix, Inc. ... "Selling the two operating companies to Innovative ... the companies to,resume full operations and get ...
Cached Biology Technology:AMT Starts Collaboration With St. Jude Children's Research Hospital on Gene Therapy for Hemophilia B. Company Accesses Exclusive Commercial Rights to Final Therapy 2AMT Starts Collaboration With St. Jude Children's Research Hospital on Gene Therapy for Hemophilia B. Company Accesses Exclusive Commercial Rights to Final Therapy 3AMT Starts Collaboration With St. Jude Children's Research Hospital on Gene Therapy for Hemophilia B. Company Accesses Exclusive Commercial Rights to Final Therapy 4Study reveals principles behind stability and electronic properties of gold nanoclusters 2Study reveals principles behind stability and electronic properties of gold nanoclusters 3Study reveals principles behind stability and electronic properties of gold nanoclusters 4HealthSonix Sells Operating Subsidiaries to Innovative Health Sciences 2
... Johnstone and M.W. Turner ... describes step-by-step methods for ... relevant molecules, the use ... specific analytical probes and ...
Request Info...
LabFax: Immunochemistry...
Edited by P.J. Delves (1997) An up-to-date review of antibody-raising technologies, this volume provides researchers with immediate access to the protocols they require every day....
Biology Products: