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:10/16/2014)... managers have a new synthesis of recent research findings ... forests in the two states. , The Ecology ... and Washington: A Synthesis of the Relevant Biophysical Science ... report published by the U.S. Forest Service,s Pacific Northwest ... from managers for a synthesis of the large body ...
(Date:10/16/2014)... cultivated efficiently, they are anything but sustainable: environmental ... cultivation is becoming increasingly evident. Despite their disadvantages, ... are regarded as the sole possibility of achieving ... finds Bernhard Schmid, an ecology professor at the ... of agriculture and forestry. After all, a new ...
(Date:10/16/2014)... (October 16, 2014) – Post-menopausal women experienced improvements ... hormone levels or genital bleeding, after 12 weeks ... investigational fermented soy germ-based nutritional supplement previously shown ... a new peer-reviewed pilot study reported in a ... annual scientific meeting. , "These data documented ...
Breaking Biology News(10 mins):New report synthesizes best available science on management of moist mixed-conifer forests 2Plant communities produce greater yield than monocultures 2Plant communities produce greater yield than monocultures 3S-equol supplements associated with improved measures of reproductive health in postmenopausal women 2
... warming is causing the worldwide declines of amphibians may ... biologists. The findings, which contradict two widely held views, ... toads and aid in their conservation. "We are ... event," said Peter Hudson, the Willaman professor of biology ...
... by the National Environment Research Council and led by ... and colleagues from Cambridge University and British Antarctic Survey ... week. The World Conference on Marine Biodiversity is ... The Queen,s research forms part of a decade-long ...
... -- Pollution by phosphorous and nitrogen isn,t just bad for ... researchers at Kansas State University, it,s also bad for Americans, ... basic as how much they spend on bottled water, said ... about what,s in the tap water, you might be shelling ...
Cached Biology News:Global warming link to amphibian declines in doubt 2Global warming link to amphibian declines in doubt 3Queen's University Belfast researchers trace octopuses' family tree 2K-State research: Freshwater pollution costs US at least $4.3 billion a year 2
(Date:10/18/2014)... (PRWEB) October 18, 2014 The ... defines and segments the bio-based advanced phase change ... of revenue. , Browse through the TOC of ... report to get an idea of the in-depth ... the segmentation in the Asia-Pacific bio-based advanced phase ...
(Date:10/18/2014)... (PRWEB) October 18, 2014 The Asian ... in Asia with analysis and forecast of revenue. The ... to $712.3 million by 2018, at a CAGR of ... TOC of the Asian arthroscopic devices market, to get ... provides a glimpse of the segmentation of arthroscopic devices ...
(Date:10/18/2014)... (PRWEB) October 18, 2014 The Asia-Pacific ... and segments the concerned market in Asia-Pacific with analysis ... $72.6 million in 2013, and is expected to reach ... from 2013 to 2018. , Browse through the TOC ... an idea of the in-depth analysis provided. This also ...
(Date:10/18/2014)... New York, NY (PRWEB) October 18, 2014 ... at a healthy rate in the five years to ... by several federal renewable energy tax credits that encouraged ... states have enacted renewable portfolio standards (RPSs), which require ... a percentage of their total energy portfolio. Increased campaigning ...
Breaking Biology Technology:The Asia-Pacific Bio-based Advanced Phase Change Materials Market is estimated to grow to $39.8 million by 2018 - New Report by MicroMarket Monitor 2The Asia-Pacific Bio-based Advanced Phase Change Materials Market is estimated to grow to $39.8 million by 2018 - New Report by MicroMarket Monitor 3The Asia-Pacific Bio-based Advanced Phase Change Materials Market is estimated to grow to $39.8 million by 2018 - New Report by MicroMarket Monitor 4The Asian arthroscopic devices market is estimated to grow to $712.3 million by 2018 - New Report by MicroMarket Monitor 2The Asian arthroscopic devices market is estimated to grow to $712.3 million by 2018 - New Report by MicroMarket Monitor 3The Asian arthroscopic devices market is estimated to grow to $712.3 million by 2018 - New Report by MicroMarket Monitor 4The Asia-Pacific Liquid Crystal on Silicon (LCoS) display market is expected to reach $380.0 million by 2018 - New Report by MicroMarket Monitor 2The Asia-Pacific Liquid Crystal on Silicon (LCoS) display market is expected to reach $380.0 million by 2018 - New Report by MicroMarket Monitor 3Biomass Power in the US Industry Market Research Report from IBISWorld Has Been Updated 2Biomass Power in the US Industry Market Research Report from IBISWorld Has Been Updated 3
... , TONBRIDGE, England, Sept. 3 Thousands ... lottery after Department of Health (DH) guidance on swine flu vaccination ... the jab. , , A document leaked to ... all Primary Care Trusts (PCTs) in the region to exclude pharmacists ...
... , , , ATLANTA, Sept. 3 ... to attend the second annual global Ross Summit , ... is performed on up to 1,500 individuals globally each year -- a ... published. , , , , ...
... , , AURORA, Ontario, Sept. 3 ... announced that John Docherty, president and chief operating officer, will ... at 12:05 p.m. EDT on Wednesday, Sept. 9, at the ... will provide an overview of the Company,s leading product development ...
Cached Biology Technology:Health Workers Face Postcode Lottery for Swine Flu Vaccine, Chemist+Druggist Reveals 2CryoLife's Second Annual Surgical Congress for the Ross Procedure to Draw More than 130 Cardiovascular Surgeons from Around the World 2CryoLife's Second Annual Surgical Congress for the Ross Procedure to Draw More than 130 Cardiovascular Surgeons from Around the World 3CryoLife's Second Annual Surgical Congress for the Ross Procedure to Draw More than 130 Cardiovascular Surgeons from Around the World 4Helix Biopharma to Present at the Rodman & Renshaw 11th Annual Healthcare Conference 2Helix Biopharma to Present at the Rodman & Renshaw 11th Annual Healthcare Conference 3
... suitable for a broad range of applications. ... physiological signal such as ECG, EMG, SCR ... use with a wide range of bridge ... stimulus artefact clamp to avoid saturation when ...
... Polystyrene covers can be used ... Ridged covers for stacking of ... covers for use with automated ... ridged and non-ridged, are available ...
... available for use with 96- or 384-well PCR plates ... ease of location on 96-tube plates End tabs ... of the plate* Efficient sealing is achieved with ... with screw or clip-down hot lid thermal cyclers ...
... can be used with all ... for stacking of covered plates ... use with automated systems ... non-ridged, are available for use ...
Biology Products: