Navigation Links
Cancer-related pathways reveal potential treatment target for congenital heart disease
Date:2/21/2011

were investigating how a cluster of congenital diseases known as "RASopathies" defects caused by mutations in different genes in the so-called "RAS pathway" develop. They focused on two genetic disorders: Noonan Syndrome, which occurs in 1 in 1,000-2,500 live births and causes short stature, facial, blood and cardiovascular abnormalities; and the much less common LEOPARD Syndrome, which features short stature, as well as skin, facial, skeletal and cardiovascular abnormalities. HCM is prevalent in both syndromes.

The UHN study team, co-led by Dr. Toshiyuki Araki, Assistant Scientist, Campbell Family Institute and Dr. Peter Backx, Senior Scientist, Toronto General Research Institute and the Peter Munk Cardiac Centre, and Professor of Medicine, Division of Cardiology and Department of Physiology, U of T, investigated Noonan Syndrome. The Boston team, led by Dr. Maria Kontaridis, Assistant Professor of Medicine Harvard Medical School and Division of Cardiology, BIDMC, investigated LEOPARD Syndrome.

The scientists introduced the genetic mutations that cause these syndromes into special strains of mice, and were able to reproduce the features of the human disorders. The Toronto group found that "excessive activity of an enzyme called ERK, a downstream target of the RAS pathway, caused HCM in Noonan Syndrome, and successfully used a drug that lowers the activity of this enzyme to decrease pathway activity and normalize all of the features of Noonan Syndrome," says Dr. Neel. The Boston group found that LEOPARD Syndrome results from excessive activity of a different enzyme downstream of RAS, called mTOR. Using the mTOR inhibitor Rapamycin, which is already approved as an immunosuppressant, they were able to reverse HCM in their mouse model of LEOPARD Syndrome.

"These research findings are important steps towards understanding the pathogenesis of these congenital syndromes, and point the way toward clinical trials of these agents in severely affe
'/>"/>

Contact: Jane Finlayson
jane.finlayson@uhn.on.ca
416-946-2846
University Health Network
Source:Eurekalert

Page: 1 2 3

Related biology news :

1. New clues to how cancer-related proteins plasmin, thrombin lose inhibition
2. Barcelona Declaration 2008: Challenges and Pathways to Earth Sustainability
3. Bipolar disorder genes, pathways identified by Indiana University neuroscientists
4. Nicotine activates more than just the brains pleasure pathways
5. Computational model examines the pathways of Alzheimers that strikes at the young
6. Computational model examines the pathways of Alzheimers that strikes at the young
7. Trans fats hinder multiple steps in blood flow regulation pathways
8. UCSF researchers identify 2 key pathways in adaptive response
9. Scientific pathways into the nanoworld
10. Mapping out pathways to better soybeans
11. AgriLife scientist: Functional amino acids regulate key metabolic pathways
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:9/29/2014)... , Sept. 29, 2014 NXT-ID, Inc. ... the "Company"), a biometric authentication company focused on the ... S. Miceli has been named the Company,s Vice-President ... Gino Pereira as Chief Financial Officer. Mr. ... Executive Officer and as a Director. Mr. ...
(Date:9/29/2014)... safely tolerate treatment with cells cultured from human placental ... journal Multiple Sclerosis and Related Disorders . The ... conducted by researchers at Mount Sinai, Celgene Cellular Therapeutics ... institutions. , While designed to determine safety of ... that a preparation of cultured cells called PDA-001 may ...
(Date:9/28/2014)... by scientists at the University of California, Santa Cruz, ... within the genomes of primates drove the evolution of ... in every cell of our bodies. , The ... "retrotransposons" (a.k.a. "jumping genes") and the genes that have ... have, for the first time, identified genes in humans ...
Breaking Biology News(10 mins):NXT-ID, Inc. Names Vice-President and Chief Financial Officer 2NXT-ID, Inc. Names Vice-President and Chief Financial Officer 3Cells from placentas safe for patients with multiple sclerosis 2Human genome was shaped by an evolutionary arms race with itself 2Human genome was shaped by an evolutionary arms race with itself 3Human genome was shaped by an evolutionary arms race with itself 4
... is well known that animals use song as a way ... developed an unusual way of scaring off predators ?by singing ... Andrews discovered that wild gibbons in Thailand have developed a ... singing for survival, the gibbons appear to use the song ...
... replication within resident immune cells of the testis, providing ... even after effective highly active antiretroviral therapy. The related ... to human immunodeficiency virus-1 infection in situ and in ... of Pathology. , According to the most recent ...
... timing of food availability, researchers have identified the first ... Period 2, is a key component of the circadian ... of the University of Fribourg and Etienne Challet of ... 24th issue of the journal Current Biology, published by ...
Cached Biology News:Singing for survival 2Singing for survival 3Human testis harbors HIV-1 in resident immune cells 2Circadian gene helps the brain predict mealtime 2
(Date:9/30/2014)... MA and Pittsburgh PA (PRWEB) September 30, 2014 ... Clinical Research Nurses ( IACRN), a non-profit ... Alliance for Clinical Research Excellence and Safety ... the signing of a strategic alliance agreement, setting ... IACRN’s vision is to enhance clinical research quality ...
(Date:9/29/2014)... forefront of diagnostics today, with imaging techniques like ... and NMR (nuclear magnetic resonance) increasing steeply over ... image resolution and quality still limit these techniques ... solution is hyperpolarization, which involves injecting the patient ... following the distribution and fate of specific molecules ...
(Date:9/29/2014)... , Sept. 29, 2014  Ten of the ... of cartilage repair, regeneration, allograft reconstruction and research ... the world gathered to discuss the future of ... of Regenerative Medicine symposium, Cartilage Regeneration: State ... included Orthopedic Biosurgery, Minced Juvenile Allograft, and State ...
(Date:9/29/2014)... , Sept. 29, 2014 /PRNewswire/ - Portage Biotech Inc. ... PBT.U), is pleased to announce that its three Promissory ... Portage, who advanced $ 100,000 each in July 2014 ... their Notes and related Coupons converted into 3,500,001 restricted ... carried 5% coupon. Both the Note and the coupon ...
Breaking Biology Technology:IACRN and ACRES to Support Clinical Research Nurses 2IACRN and ACRES to Support Clinical Research Nurses 3A safer approach for diagnostic medical imaging 2A safer approach for diagnostic medical imaging 3World Renowned Experts Discuss Future Of Cartilage Regeneration 2World Renowned Experts Discuss Future Of Cartilage Regeneration 3Portage announces conversion of its debt into equity 2Portage announces conversion of its debt into equity 3
... and Clinical Studies Demonstrate Activity of ... Agent against Gram-Positive Bacteria, CHICAGO, Sept. 18 ... THRX ) announced today results with the,investigational ... skin and skin structure infections,(cSSSIs) from a controlled ...
... Preclinical Animal Data Demonstrates Selective Survival Advantage of ... ZFN-Treated Immune Cells after HIV Infection, ... (Nasdaq: SGMO ) announced today the presentation of ... resistant to,HIV infection by treatment with zinc finger DNA-binding ...
... Research - the New ISI Web of Knowledge - ... Institutions Throughout the Country, PHILADELPHIA and LONDON, Sept. ... TOC ; TSX: TOC) and,leading provider of information ... that Spain,s La Fundacion Espanola,para la Ciencia y la ...
Cached Biology Technology:Astellas and Theravance Report Additional Telavancin Data at 47th Annual ICAAC 2Astellas and Theravance Report Additional Telavancin Data at 47th Annual ICAAC 3Astellas and Theravance Report Additional Telavancin Data at 47th Annual ICAAC 4Astellas and Theravance Report Additional Telavancin Data at 47th Annual ICAAC 5Astellas and Theravance Report Additional Telavancin Data at 47th Annual ICAAC 6Sangamo BioSciences Presents Data Demonstrating 'In Vivo' Protection Against HIV Infection by CCR5-ZFN Therapeutic 2Sangamo BioSciences Presents Data Demonstrating 'In Vivo' Protection Against HIV Infection by CCR5-ZFN Therapeutic 3Sangamo BioSciences Presents Data Demonstrating 'In Vivo' Protection Against HIV Infection by CCR5-ZFN Therapeutic 4Sangamo BioSciences Presents Data Demonstrating 'In Vivo' Protection Against HIV Infection by CCR5-ZFN Therapeutic 5Spanish Research Consortium Signs Four-Year Renewal Deal for ISI Web of Knowledge 2Spanish Research Consortium Signs Four-Year Renewal Deal for ISI Web of Knowledge 3
... operational costs. More efficient interfacing with ... sample volumes. Industry demands for benefits ... microbore chromatography for routine applications. Standard ... satisfy the need to operate with ...
From the company that first brought you the chromatin immunoprecipitation (ChIP) kit, a new and improved kit, EZ-ChIP, is now available to make your experiments easier, quicker, and most importantly,...
... Hepta adaptor for the PDS-1000 He biolistic system ... than the standard system. It fits into the ... it splits the helium shock wave over 7 ... tungsten particles over this larger area, the system ...
Kit Components: Anti-Acetylated Histone H3 Salmon Sperm DNA/Protein A Agarose All necessary buffers. ...
Biology Products: