Navigation Links
Study shows rapamycin reverses myocardial defects in mouse model of LEOPARD syndrome
Date:2/21/2011

BOSTON Congenital heart diseases affect approximately one in 100 patients, making them the most common type of birth defect and the number-one cause of pediatric deaths.

Now a new study showing that the mTOR inhibitor drug rapamycin can reverse cardiac muscle damage in a mouse model of the congenital disease LEOPARD syndrome not only identifies the first possible medical treatment for this rare condition, but also demonstrates the importance of targeted therapies in managing congenital diseases.

The research, led by investigators at Beth Israel Deaconess Medical Center (BIDMC), is published in the March issue of the Journal of Clinical Investigation (JCI), which appears on-line today.

"The genetic mutations that alter the signaling pathways involved in cardiac development have been implicated in approximately 30 percent of the defects associated with congenital heart diseases," explains the study's senior author Maria Kontaridis, PhD, a scientist in the Division of Cardiovascular Medicine at BIDMC and Assistant Professor of Medicine at Harvard Medical School. "But the molecular underpinnings of these mutations have not been clear. This new work helps illuminate their complex biochemistry."

Kontaridis's lab investigates LEOPARD syndrome and Noonan syndrome, two of a cluster of congenital diseases known as "RASopathies," which are the result of defects caused by mutations in genes in the RAS signaling pathway.

LEOPARD syndrome affects approximately 200 individuals worldwide and is clinically distinguished by multiple lentigines (freckle-like spots on the skin), as well as craniofacial defects, deafness, and blood abnormalities which can give rise to pediatric leukemias. Hypertrophic cardiomyopathy a thickening of the heart muscle that typically leads to heart failure is also associated with LS. With the exception of lentigines, Noonan syndrome patients exhibit nearly identical features and pathologies.'/>"/>

Contact: Bonnie Prescott
bprescot@bidmc.harvard.edu
617-667-7306
Beth Israel Deaconess Medical Center
Source:Eurekalert

Page: 1 2 3

Related biology news :

1. New study illustrates shifting biomes in Alaska
2. NIFA announces grants to study the effects of climate change on agricultural and forest production
3. Study suggests statins may prevent diabetic-related blindness
4. First-of-its-kind study shows benefits of electrical stimulation therapy for people paralyzed by spinal cord injury
5. Designing new molecular tools to study the life and death of a cancer cell
6. Scripps Research study sheds light on RNA on/off switches
7. Study finds massive flux of gas, in addition to liquid oil, at BP well blowout in Gulf
8. Pulmonary fibrosis inhibited by pentraxin-2/SAP in research study
9. NSF funds study of landscape restoration effects on Pennsylvania stream
10. VTT to study one of worlds oldest beers
11. Brandeis study shows economic impact of dengue virus in Americas
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:11/7/2014)... BURBANK, Calif. , Nov. 7, 2014  In conjunction ... Burbank Police Departments, The Community Foundation of the ... BURBANK DNA JUSTICE PROJECT," a $250,000 initiative to ... successful initial phase. In its first six months of existence, ... desperately needed evidence support for local law enforcement. ...
(Date:11/6/2014)... asset for a predator. Except when that predator runs so ... relative to its size, is the fastest creature on Earth. ... per second (at about five miles per hour). The fastest ... sprinting gold from the tiger beetle, a person would have ... beetle has a problem. At peak speeds, everything becomes a ...
(Date:11/5/2014)... show great diversity in their ability to identify scents ... differ in their perceptual evaluation of odors, with women ... , Sex differences in olfactory detection may play ... connected to one,s perception of smell, which is naturally ... superiority has been suggested to be cognitive or emotional, ...
Breaking Biology News(10 mins):Community Foundation Of The Verdugos Unveils Campaign To Fund Glendale-Burbank DNA Justice Project 2The tiger beetle: Too fast to see 2The female nose always knows: Do women have more olfactory neurons? 2
... Amsterdam, November 17, 2009 Brain imaging can offer a ... A study conducted at the University of Kansas School of ... of even those who are healthy, but carry some risk ... the November 2009 issue of the Journal of Alzheimer,s ...
... Two University of New Hampshire assistant professors ... Early Career Development (CAREER) grants. Vaughn Cooper of ... received $1 million to better understand beneficial mutations ... data collection. Christopher White of the mechanical engineering ...
... available in German . , Scientists from ... Munich, Germany, have now deciphered the mechanism that illustrates how ... car, these cells have an engine, a clutch and wheels ... group leader at the MPI of Biochemistry. The results, which ...
Cached Biology News:2 UNH faculty receive $1.4M in CAREER grants from NSF 2Cross-country runabouts -- immune cells on the move 2
(Date:11/26/2014)... 25, 2014 Whitehouse Laboratories is ... the Morris County (New Jersey) Chamber of Commerce ... leading business organization in the North Jersey area, ... engage some key clients in the pharmaceutical and ... geographic area. Membership enables Whitehouse Laboratories a higher ...
(Date:11/26/2014)... Continuing its award-winning streak, Nerium International, the ... Awards for outstanding creative achievement by its marketing and ... the organization’s top honor, in the Branding category for ... April of this year. The event showcased top speakers ... was awarded a Gold MarCom Award in the Special ...
(Date:11/26/2014)... (PRWEB) November 25, 2014 Miles Holder, ... joined the Graphel Carbon Products team as Sales/Marketing Manager. ... marketing, and customer service for the graphite industry. , ... to our team,” stated Dave Trinkley, VP of Market ... wide range of experience in the graphite industry, along ...
(Date:11/26/2014)... November 26, 2014 2014 Deep ... an in-depth research report on the Global Palmitic ... introduces Palmitic Acid, basic information, including definition, classification, ... and news analysis, etc. , For international ... Palmitic Acid market in China and other ...
Breaking Biology Technology:Whitehouse Laboratories Joins Morris County Chamber of Commerce 2Whitehouse Laboratories Joins Morris County Chamber of Commerce 3Nerium International™ Wins One Platinum, Two Gold MarCom Awards 2Miles Holder Joins Graphel Corporation as Sales/Marketing Manager 2Palmitic Acid Industry Global 2014 Analysis & 2020 Forecasts on Market data, Statics, Development Now at ReportsnReports.com 2Palmitic Acid Industry Global 2014 Analysis & 2020 Forecasts on Market data, Statics, Development Now at ReportsnReports.com 3
... optimizing electroporation., , , , , , , , ... Pulse length , , ... , of the electroporation buffer , Influence , ... of temperature , Influence , ...
... , , , , ... in most laboratories that RNA is more susceptible , ... metal ions for activity (and can therefore easily be inactivated ... (RNases) have virtually no cofactor , requirements and ...
... TM Help ? , , , , , , ... , , As ... that is performed everyday, for a good portion , of ... Due to the nature of the tests being conducted, only short breaks , ...
Cached Biology Technology:Optimizing electroporation parameters 2Optimizing electroporation parameters 3Optimizing electroporation parameters 4Optimizing electroporation parameters 5Decontamination and inhibition of ribonucleases 2Decontamination and inhibition of ribonucleases 3Decontamination and inhibition of ribonucleases 4Ergonomics and Liquid Handling, How can BrinkmannTM Help ? 2Ergonomics and Liquid Handling, How can BrinkmannTM Help ? 3Ergonomics and Liquid Handling, How can BrinkmannTM Help ? 4
Can be used for the quantitative recovery of small amounts of nucleic acids within dilute solutions. 5mg/ml...
APOPTAG® Plastic Coverslips are designed to be custom fitted to the specific APOPTAG® kit application. Each coverslip has 2.5 x 1 dimensions....
Human VEGF-D Biotinylated MAb (Clone 78923)...
Recombinant Mouse TGF-beta RII/(human) Fc Chimera, CF...
Biology Products: