Navigation Links
IU researchers target vascular disease linked to cancer-causing gene mutation
Date:3/23/2010

INDIANAPOLIS Researchers have discovered how a genetic disease known mainly for its life-threatening tumors also can cause sudden death from cardiovascular disease in children, and are mounting a clinical trial to develop treatments for the problem.

Scientists from the Indiana University School of Medicine found that the mutation that causes neurofibromatosis type 1 disease leads to arterial inflammation and damage that is similar to the long-term damage that can occur as people age. They reported their findings in the March issue of the Journal of Clinical Investigation.

Neurofibromatosis results from mutations in a gene called NF1, which causes tumors to form in the cells that make up the protective sheaths around nerves. In humans, NF1 mutations resulting in neurofibromatosis occur in one in 3,500 births, making it the most common genetic disease in humans that results in a predisposition to cancer.

However, cardiovascular disease in children with neurofibromatosis is a significant but under-recognized problem for which the patients are rarely tested, said David Ingram, M.D., associate professor of pediatrics and of biochemistry and molecular biology and principal investigator of the research team. Moreover, he said, "It's often a silent killer with no symptoms or warnings in advance of a catastrophic event the children present with a heart attack or stroke."

A 2001 analysis of death certificates by Jan Friedman, M.D., Ph.D, of the University of British Columbia in Vancouver, found that the median age of death of NF1 patients was 15 years younger than the general population. NF1 patients who died at age 30 or younger were more than seven times as likely as normal patients to have been diagnosed with a cardiovascular problem.

Using genetic experiments in mice Dr. Ingram and his team were able to narrow the cause of the cardiovascular problems down to the inflammatory cells delivered to the site of the damaged blood vessel, ruling out potential effects from NF1 gene mutations in the blood vessel muscle cells and the cells that line the inside of the blood vessels.

In addition, they compared blood samples from a small group of human patients with and without the NF1 mutation and found that the neurofibromatosis patients had significant levels of inflammatory cells and other compounds that pose a higher risk of cardiovascular disease.

The IU researchers, in collaboration with Dr. Friedman in Vancouver, have begun a pilot clinical trial to evaluate potential diagnostic tests, including blood pressure monitoring and ultrasound tests of carotid arteries, that might enable physicians to discover and treat neurofibromatosis patients who are developing cardiovascular problems.

"We think that if we can demonstrate this association with vascular effects and the ability to diagnose them we could proceed to an intervention clinical trial. Statins have anti-inflammatory effects and there are other agents that could potentially be used," Dr. Ingram said.


'/>"/>

Contact: Eric Schoch
eschoch@iupui.edu
317-274-7722
Indiana University School of Medicine
Source:Eurekalert

Related biology news :

1. NYU School of Medicine presents biomedical researchers Dart/NYU Biotechnology Achievement Awards
2. Princeton researchers find that high-fructose corn syrup prompts considerably more weight gain
3. Researchers find Clostridium difficile is more common than MRSA in southeast community hospitals
4. Einstein researchers discover 2 new ways to kill TB
5. USC researchers identify key mechanism that guides cells to form heart tissue
6. Frogs, foam and fuel: University of Cincinnati researchers convert solar energy to sugars
7. U-M researchers solve a molecular mystery in muscle
8. Researchers introducing sustainable agriculture practices to improve food security
9. Carnegie Mellon researchers seek to control blood loss
10. Researchers characterize stem cell function
11. Penn researchers identify immune cells that fight parasites may promote allergies and asthma
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:4/28/2016)... India , April 28, 2016 ... Infosys (NYSE: INFY ), and Samsung SDS, a ... that will provide end customers with a more secure, ... services.      (Logo: http://photos.prnewswire.com/prnh/20130122/589162 ) , ... services, but it also plays a fundamental part in enabling ...
(Date:4/26/2016)... -- Research and Markets has announced the ...  report to their offering.  , ,     (Logo: ... forecast the global multimodal biometrics market to grow ... 2016-2020.  Multimodal biometrics is being implemented ... healthcare, BFSI, transportation, automotive, and government for controlling ...
(Date:4/15/2016)... 15, 2016 Research and ... Biometrics Market 2016-2020,"  report to their offering.  , ... , ,The global gait biometrics market is expected ... the period 2016-2020. Gait analysis generates ... be used to compute factors that are not ...
Breaking Biology News(10 mins):
(Date:5/25/2016)... ... May 25, 2016 , ... Founder of ... board-certified in surgery and surgery of the hand by the National Board of ... to going above and beyond in his pursuit of providing the most comprehensive, ...
(Date:5/25/2016)... ... May 25, 2016 , ... Lady had been battling arthritis since ... ligament in her left knee. Lady’s owner Hannah sought the help of Dr Jeff ... surgeon, to repair her cruciate ligament and help with the pain of Lady’s arthritis. ...
(Date:5/24/2016)... ... May 24, 2016 , ... Last week, Callan Capital, ... executives and entrepreneurs, held The Future of San Diego Life Science event at the ... life science community attended the event with speakers Dr. Rich Heyman, former CEO of ...
(Date:5/23/2016)... May 23, 2016 Zimmer Biomet Holdings, Inc. (NYSE ... announced that its Board of Directors has approved the payment ... quarter of 2016. The cash dividend of ... 29, 2016 to stockholders of record as of the close ... are subject to approval of the Board of Directors and ...
Breaking Biology Technology: