Navigation Links
Big-hearted fish reveals genetics of cardiovascular condition
Date:2/25/2009

PHILADELPHIA Researchers at the University of Pennsylvania School of Medicine have unlocked the mystery of a puzzling human disease and gained insight into cardiovascular development, all thanks to a big-hearted fish.

Mark Kahn, MD, Associate Professor of Medicine, graduate student Benjamin Kleaveland, and colleagues report in the February issue of Nature Medicine that a human vascular condition called Cerebral Cavernous Malformation (CCM) is caused by leaky junctions between cells in the lining of blood vessels. By combining studies with zebrafish and mice, the researchers found that the aberrant junctions are the result of mutated or missing proteins in a novel biochemical process, the so-called Heart-of-glass (HEG)-CCM pathway.

The HEG-CCM pathway "is essential to regulate endothelial cell-cell interaction, both during the time that vertebrates make the cardiovascular system and later in life," says Kahn. "Its loss later in life confers this previously unexplained disease, cerebral cavernous malformation."

CCM proteins, along with the receptor HEG, are responsible for building properly formed blood and lymphatic vessels during embryonic development by sealing the cell-cell junctions in the walls of vessels; loss of any of these proteins disrupts those seals, causing leaky vasculature.

Cerebral Cavernous Malformations are abnormal clusters of leaky blood vessels, typically in the brain, which can cause both seizures and strokes. The condition affects about 1 in 1,000 people, about 20% of whom carry a genetic predisposition for the condition. Researchers had already identified the genes responsible for the disease indeed they were named CCM1, CCM2, and CCM3, in recognition of that fact but not what those genes did.

That's where the big-hearted fish come in. Several years ago, another research team discovered that mutations in CCM1, CCM2, or HEG (which had not previously been linked to CCM) caused zebr
'/>"/>

Contact: Karen Kreeger
karen.kreeger@uphs.upenn.edu
215-349-5658
University of Pennsylvania School of Medicine
Source:Eurekalert  

Page: 1 2 3

Related medicine news :

1. New Texas Study Reveals Serious Flaws in Abstinence Programs
2. Billions for Bank Bailouts, But How to Rebuild the Brands? NeuroFocus Reveals New Brainwave-Based Solutions
3. Research reveals best paths for success as microfinance sector grows
4. Siemens Survey Reveals Low Awareness of Escalating Need for Superior Data Center Efficiency
5. King Size Combo: New Report Reveals Broad Toll on Taxpayers by Bailed-Out Bank Goldman Sachs and Its Holdings in Burger King
6. New Study Reveals Shake-Up in the Most Promising AEC Markets for 2009
7. First brain study reveals benefits of exercise on quitting smoking
8. TheWrap.Com Reveals Inconsistencies in Explanation of Closing of Motion Picture Home
9. Study Reveals Consumers Want to Buy Products That Dental Hygienists Recommend
10. New Study Reveals Swimming Can Cut Mens Risk of Dying in Half
11. Novel Photoconductive Cellular Depolarization Technology Reveals Insight Into Neuronal Growth, Guidance, and Regeneration
Post Your Comments:
*Name:
*Comment:
*Email:
Related Image:
 Big-hearted fish reveals genetics of cardiovascular condition
(Date:12/25/2014)... December 25, 2014 When head lice hits ... in a frenzy to get rid of it while keeping ... in Coral Gables now have the solution right in their ... clinic location, Lice Troopers provides full spectrum head lice screening ... Gable area, including Sunset, Key Biscayne, Brickell, Coconut Grove, Kendall, ...
(Date:12/25/2014)... -- Among early stage breast cancer patients who undergo ... percent will eventually develop leukemia as a result of ... comes from a review of more than 20,000 breast ... suggests that the risk for developing treatment-related leukemia, though ... "The frequency of bone marrow cancers such as ...
(Date:12/25/2014)... California (PRWEB) December 25, 2014 Plugin ... of ProFire 5k. A fully customizable business presentation tool ... , “Adding the ProFire 5k business tool, users can ... Christina Austin, CEO of Pixel Film Studios. “ProFire 5k ... and style to add professionalism to a presentation” , ...
(Date:12/24/2014)... Over 700 toys, that’s what ... That is 700 smiling little faces this holiday that ... $6000 in monetary donations was given to the various ... expenses they incur through the year. Some of the ... Child's Haven , Shrine's Children's Hospitals, Toys for Tots ...
(Date:12/24/2014)... 24, 2014 New studies reveal that women ... loss related depression (March 6, 2014, JAMA Otolaryngology*). And although ... loss (about 50 percent according to recent polls) facing hearing ... how a person feels and relates to the world. People ... are also made by way of:, , ...
Breaking Medicine News(10 mins):Health News:Coral Gables Florida Gets Ready to Be Lice-Free with Lice Troopers 2Health News:Breast Cancer Chemo Tied to Small But Significant Leukemia Risk 2Health News:Breast Cancer Chemo Tied to Small But Significant Leukemia Risk 3Health News:Announcing a new ProFire 5k plugin from Pixel Film Studios for Final Cut Pro X Professionals 2Health News:AlignLife Donates Over 700 Toys This Year 2Health News:Recent Studys Underscore the Fact That One of the Best Gifts to Give This Holiday Season is a Hearing Test 2Health News:Recent Studys Underscore the Fact That One of the Best Gifts to Give This Holiday Season is a Hearing Test 3Health News:Recent Studys Underscore the Fact That One of the Best Gifts to Give This Holiday Season is a Hearing Test 4Health News:Recent Studys Underscore the Fact That One of the Best Gifts to Give This Holiday Season is a Hearing Test 5Health News:Recent Studys Underscore the Fact That One of the Best Gifts to Give This Holiday Season is a Hearing Test 6
... , , , ... regulations take effect under the HITECH Act. HIPAA-covered entities, ... notify affected individuals, the Secretary of Health and Human Services ... information (PHI) is breached. With these new rules in ...
... Researchers have shown for the first time that patterns of ... cancer has started to spread in melanoma patients, and to ... much surgery, if any, is required and to predict the ... cancer congress, ECCO 15 ESMO 34 [1], in Berlin ...
... ... Home Training and Consulting Inc., an industry leader in Continuous Process Improvement ... Sigma Yellow Belt Course available for free. This will help thousands of ... also allow potential Lean Six Sigma Green Belt and Black Belt Candidates ...
... ... Software environment with Strategic,s validation toolkit , ... Cardiff-by-the-Sea, Calif. (PRWEB) September 23, 2009 -- Strategic Information ... solutions, today announced an expanded Alliance relationship with QAD Inc (Nasdaq: QADI), ...
... NEW YORK, Sept. 23 Grammy Award-winning singer-songwriter John Legend ... Nikki Beach Midtown for Project Sunshine,s fall fundraiser to benefit children ... 48" x 32" mixed media portrait of the singer that was ... charity. , , (Photo: ...
... , , IRVINE, Calif., Sept. ... Maggots(TM) in the United States, announced today that its Laboratory ... Limb Salvage conference in Washington, DC, from September 24 to ... the company,s Medical Maggots(TM) product (disinfected Phaenicia sericata ...
Cached Medicine News:Health News:Healthcare Breach Notification Rules Take Effect; ID Experts Offers Complimentary Tool to Measure Organizations' Breach Index 2Health News:Healthcare Breach Notification Rules Take Effect; ID Experts Offers Complimentary Tool to Measure Organizations' Breach Index 3Health News:Ultrasound can predict tumor burden and survival in melanoma patients 2Health News:Ultrasound can predict tumor burden and survival in melanoma patients 3Health News:Mountain Home Helps Companies Battle Tough Economic Times by Offering Free Lean Six Sigma Training 2Health News:Strategic Information Group Announces QAD Enterprise Validation Partnership 2Health News:Strategic Information Group Announces QAD Enterprise Validation Partnership 3Health News:Monarch Labs to Demonstrate Maggot Therapy at Diabetic Limb Salvage Conference 2Health News:Monarch Labs to Demonstrate Maggot Therapy at Diabetic Limb Salvage Conference 3
(Date:12/24/2014)... DIEGO , Dec. 24, 2014  Conkwest, ... West, developing the proprietary Natural Killer (NK) cell-line ... that Dr. Patrick Soon-Shiong , NantWorks founder, ... a definitive agreement to purchase approximately $48 million ... connection with the investment, he will be named ...
(Date:12/24/2014)... 23, 2014 PuraMed BioScience®, Inc., (OTC Pink: ... medicinal and healthcare products, announced it received the initial ... hemp-based, advanced headache relief product, for planned distribution to ... Colorado , Washington State , ... the MigraPure H Advanced headache relief gel formulation completed, ...
(Date:12/24/2014)... , December 24, 2014 ... Report on Global Disposable Syringe Industry of ... its online business intelligence library. ... Disposable Syringe Industry is a professional and ... market.  For overview analysis, the report introduces ...
Breaking Medicine Technology:Conkwest Announces $50m In Strategic Investments And Appoints NantWorks Founder, Dr. Patrick Soon-Shiong As Co-Chairman Of The Board 2Conkwest Announces $50m In Strategic Investments And Appoints NantWorks Founder, Dr. Patrick Soon-Shiong As Co-Chairman Of The Board 3Conkwest Announces $50m In Strategic Investments And Appoints NantWorks Founder, Dr. Patrick Soon-Shiong As Co-Chairman Of The Board 4Conkwest Announces $50m In Strategic Investments And Appoints NantWorks Founder, Dr. Patrick Soon-Shiong As Co-Chairman Of The Board 5PuraMed BioScience Nears Final Stages Needed for Distribution of MigraPure H 2PuraMed BioScience Nears Final Stages Needed for Distribution of MigraPure H 3World Disposable Syringe Market 2014 Report: China and Regional Analysis 2World Disposable Syringe Market 2014 Report: China and Regional Analysis 3World Disposable Syringe Market 2014 Report: China and Regional Analysis 4World Disposable Syringe Market 2014 Report: China and Regional Analysis 5
... Athletes Who Have UCL Reconstruction Prior to Being Drafted ... Feb. 28 New research presented at ... Day in Las Vegas suggests that elbow ulnar collateral ... League Baseball (MLB) draft does not increase the risk ...
... -- MannKind Corporation (Nasdaq: MNKD ... new drug application ("NDA") for AFRESA(R), an ultra rapid-acting insulin ... announced, our internal goal was to submit the NDA to ... February. Based on editorial decisions made during the final ...
Cached Medicine Technology:Elbow Ligament Reconstruction Appears Not to Affect Future Professional Advancement in Baseball 2MannKind Updates Status of NDA Submission for AFRESA 2MannKind Updates Status of NDA Submission for AFRESA 3
... present with fever, sore throat, ... symptoms common with a viral ... able to distinguish these from ... is the one-step antibody test ...
... urine/serum combo test that you can rely ... faster results at the point-of-care ICON ... hCG is a rapid test for detecting ... technology to selectively detect elevated levels of ...
AUTION ELEVEN is the eleventh model of AUTION series which is ideal for use in small-to-medium-sized hospitals and clinics with its smart design and features....
Drugs of Abuse (DoA) Array is used for in-vitro diagnostic tests for the qualitative determination of the parent molecule and metabolites of drugs in human urine....
Medicine Products: