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:7/23/2014)... especially the young, are highly sensitive to temperature and ... temperatures within a narrow range. Recently published research led ... School of Arts and Sciences, is the first to ... hive in process similar to how humans and other ... , "This study shows how workers effectively dissipate ...
(Date:7/23/2014)... analysis of Antarctic fur seals, alongside decades of ... effect of climate change on a population of ... the findings show that the seals have significantly ... that are associated with climate conditions. Despite a ... fitness is not passing down through generations, leaving ...
(Date:7/23/2014)... samples cultured from cystic fibrosis patients, scientists at the ... Institute have shown that a new CF drug counteracts ... , The finding, published today in the journal ... protein becomes unstable and loses its ability to function ... The research offers several insights into how novel CF ...
Breaking Biology News(10 mins):How honey bees stay cool 2Genetic study shows major impact of climate change on Antarctic fur seals 2Genetic study shows major impact of climate change on Antarctic fur seals 3UNC researchers find unsuspected characteristics of new CF drugs, offering potential paths to more effective therapies 2UNC researchers find unsuspected characteristics of new CF drugs, offering potential paths to more effective therapies 3UNC researchers find unsuspected characteristics of new CF drugs, offering potential paths to more effective therapies 4
... Whitehead Institute scientists report that the gene mutated ... syndrome also prevents activation of mTORC1, a critical nutrient-sensing ... is an unexpected finding, as some cancers keep this ... expansion. In the case of Birt-Hogg-Dub syndrome, the mutated ...
... of ZooKeys - no. 346 ... on its day of publication last Friday. This marks ... taxonomic names for animals. The innovative workflow was jointly ... and a U.S. National Science Foundation project to ...
... The Prime Minister of Malaysia today outlined his country,s ... development goals, saying they need to address the relief ... concerns. Prime Minister Najib Razak commended the Millennium ... eight objectives agreed by nations in 2000 for completion ...
Cached Biology News:Gene responsible for hereditary cancer syndrome found to disrupt critical growth-regulating pathway 2Next-generation global e-infrastructure for taxon names registry 2As world sets new development goals, Malaysia calls for poverty relief within green agenda 2As world sets new development goals, Malaysia calls for poverty relief within green agenda 3As world sets new development goals, Malaysia calls for poverty relief within green agenda 4
(Date:7/23/2014)... KONG , July 23, 2014 China Cord Blood ... China,s leading provider of cord blood collection, laboratory ... Cordlife Group Limited ("Cordlife"), a multi-product healthcare company catering to the ... joined forces in assisting patients across the PRC, Singapore ... , India , the Philippines ...
(Date:7/23/2014)... Astra Nova Training , ... and pharma training services, and the Alliance ... a non-profit integrating the expertise and investments of ... global system for clinical trials, are pleased to ... expertise of industry professionals through improved and easily ...
(Date:7/22/2014)... Vibrate a solution of rod-shaped metal nanoparticles in water ... like tiny drill bits. Why? No one yet knows ... and Technology (NIST) have clocked their speedand it,s fast. ... rotate 10 times faster than any nanoscale object submerged ... dizzying rate has opened up the possibility that they ...
(Date:7/22/2014)... Automated cell culture systems are instruments ... culture. They allow production of optimum cells at a ... drug discovery and industries and biopharmaceutical companies. Cell culture ... research, cryobanking, cell-based assays, and cellular expression systems as ... forecast the Global Cell Culture market will ...
Breaking Biology Technology:China Cord Blood Corporation and Cordlife Group Limited Announce Collaboration to Aid Asia-based Patients with Cord Blood Stem Cell Therapy 2China Cord Blood Corporation and Cordlife Group Limited Announce Collaboration to Aid Asia-based Patients with Cord Blood Stem Cell Therapy 3China Cord Blood Corporation and Cordlife Group Limited Announce Collaboration to Aid Asia-based Patients with Cord Blood Stem Cell Therapy 4Astra Nova and ACRES Partner on Quality and Access of Training for Research Professionals 2Astra Nova and ACRES Partner on Quality and Access of Training for Research Professionals 3NIST shows ultrasonically propelled nanorods spin dizzyingly fast 2Global Cell Culture Market to Grow at 10.27% CAGR by 2018 Forecasts a New Research Report ReportsnReports.com 2Global Cell Culture Market to Grow at 10.27% CAGR by 2018 Forecasts a New Research Report ReportsnReports.com 3Global Cell Culture Market to Grow at 10.27% CAGR by 2018 Forecasts a New Research Report ReportsnReports.com 4
... and Advice Shared Through Dynamic WikiAnswers Q&A ... ... In a show of support for National,Breast Cancer Awareness Month, Answers.com,s ... http://wiki.answers.com/Q/FAQ/2375 ), where breast cancer survivors,friends and family have gathered to ...
... NEW YORK, Oct. 22 SPO Medical Inc. ... microprocessor,technologies for use in portable monitoring devices, today announced ... sales milestone has,been achieved within three years of the ... of the 100,000 units sold include the patented technology ...
... Pharmacopeia,(Nasdaq: PCOP ), an innovator in the discovery ... Dr. Leslie J. Browne,President and Chief Executive Officer, will ... Renshaw 9th Annual Healthcare,Conference. The conference will be held ... Hotel in New York City. Dr. Browne,s presentation ...
Cached Biology Technology:Answers.com's WikiAnswers Supervisors Rallying for National Breast Cancer Awareness Month 2Answers.com's WikiAnswers Supervisors Rallying for National Breast Cancer Awareness Month 3SPO Medical Announces Major Sales Milestone 2SPO Medical Announces Major Sales Milestone 3Pharmacopeia to Present at the Acumen BioFin Rodman & Renshaw 9th Annual Healthcare Conference 2Pharmacopeia to Present at the Acumen BioFin Rodman & Renshaw 9th Annual Healthcare Conference 3Pharmacopeia to Present at the Acumen BioFin Rodman & Renshaw 9th Annual Healthcare Conference 4
... Synucleins are small, soluble proteins expressed ... tumors. The family includes three known proteins: ... The alpha and beta synuclein proteins are ... are seen mainly in presynaptic terminals. ...
NAK/TBK1 (CT) Affinity Purified Polyclonal Antibody...
This adapter allows the Thermo-Fast® 96 Semi-Skirted (AB-0900 and AB-0990) PCR plates to be used directly in the ABI PRISM® 3100 sequencer without the need for software changes....
... Finnpipette BioControl multichannel has ... as the single channel ... fits allseven multichannel and ... cone modules. Both pipettes ...
Biology Products: