Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:


Genetic septet in control of blood platelet clotting

Findings offer new targets in developing diagnostic tests and treatments for arterial disease

In what is believed to be the largest review of the human genetic code to determine why some people's blood platelets are more likely to clump faster than others, scientists at Johns Hopkins and in Boston have found a septet of overactive genes, which they say likely control that bodily function.

"Our results give us a clear set of new molecular targets, the proteins produced from these genes, to develop tests that could help us identify people more at risk for blood clots and for whom certain blood-thinning drugs may work best or not," says co-senior study investigator and cardiologist Lewis Becker, M.D.

"We can even look toward testing new treatments that may speed up how the body fights infection or recovers from wounds," says Becker, a professor at the Johns Hopkins University School of Medicine.

Platelets are key to fighting infection and sealing wounds and, adversely, can speed up cardiovascular diseases that can lead to potentially fatal heart attacks or strokes.

Reporting in the issue of Nature Genetics online June 7, researchers tested the platelet "stickiness" in blood samples from some 5,000 American men and women and compared the results to some 2.5 million single possible changes in the human genetic code to see which genes stood out across the entire group as speeding up or slowing down platelet clumping. Study participants included both whites and blacks with no previously known chronic health problems, representing what researchers say is "a solid cross-section of American society."

Seven genes were found on their own to be hugely significant in affecting how fast or how long it took for platelets to stick together or how many platelets would clump. (The seven were more than 500 million times more likely than other genes to impact clumping, whereas the next most influential genes, a set of 15, were found to be 10,000 times more likely to affect clumping function.)

According to Becker, three of the seven genes had been previously reported as having some role in platelet aggregation, but "it was not until now that we put together all the major pieces of the genetic puzzle that will help us understand why some people's blood is more or less prone to clot than others and how this translates into promoting healing and stalling disease progression."

He points out that the latest study was made possible by combining data from two longstanding studies of why seemingly healthy people get heart disease. Results came from some 2,800 white men and women participating in the Massachusetts-based Framingham Heart Study, all since 2003, when researchers in the decades-long study began collecting platelet samples. Platelet samples came from another 2,000 similar participants, including 800 blacks, enrolled in the Genetic Study of Aspirin Responsiveness (GeneSTAR) under way at Johns Hopkins since 2002 and led by Becker's wife and study co-investigator Diane Becker, M.P.H., Sc.D., a professor at the both Hopkins' School of Medicine and the University's Bloomberg School of Public Health.

According to Diane Becker, a health epidemiologist, generalizing the data to the broader American population was only made possible by combining these large study populations, as neither on their own was sufficient for such a genome-wide scan.

In the study, platelet samples were tested for their "stickiness" in response to adding various concentrations of three chemicals commonly found in the blood, including adenosine diphosphate, or ADP, which is an energy molecule released by platelets into the blood to attract and clump with other platelets; epinephrine, a stress hormone tied to inflammation and vascular disease; and collagen, the most common protein in the human body.

Clumping results were then cross-matched with results from gene chip surveys of the human genome, which allow researchers to sort through millions of different genetic modifications to see which specific genes are more active than others. Diane Becker says the genetic analysis alone was a massive undertaking and took some two years to complete.

Lewis Becker says the teams' next steps are to test various platelet antagonists, or blood-thinning agents, like aspirin, the most common drug treatment in heart and vascular diseases, to find out precisely which hereditary factors may distinguish people who are so-called aspirin-resistant or not, and why the medication works for most but not all.

"Our combined study results really do set the path for personalizing a lot of treatments for cardiovascular disease to people based on their genetic make up and who is likely to benefit most or not at all from these treatments," says Lewis Becker.

Study funding was provided by the National Heart, Lung and Blood Institute (NHLBI), a member of the National Institutes of Health, and the Johns Hopkins Clinical Research Center.

In addition to the Beckers, other Hopkins researchers involved in this report are Lisa Yanek, M.P.H., and Nauder Faraday, M.D. Christopher O'Donnell, M.D., at the NHLBI and Massachusetts General Hospital and Harvard Medical School, was the other study senior investigator. Andrew Johnson, Ph.D., also at the NHLBI, was study lead investigator. Further assistance with results analysis was provided by Ming-Huei Chen, Martin Larson and Qiong Yang, all at the NHLBI and Boston University; as well as Geoffrey Tofler, M..D., at the University of Sydney, in Australia; and Aldi Kraja, Ph.D., and Michael Province, Ph.D., both at Washington University School of Medicine in St. Louis, Mo.

For additional information, please go to:

David March | EurekAlert!
Further information:

More articles from Life Sciences:

nachricht Novel mechanisms of action discovered for the skin cancer medication Imiquimod
21.10.2016 | Technische Universität München

nachricht Second research flight into zero gravity
21.10.2016 | Universität Zürich

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: New 3-D wiring technique brings scalable quantum computers closer to reality

Researchers from the Institute for Quantum Computing (IQC) at the University of Waterloo led the development of a new extensible wiring technique capable of controlling superconducting quantum bits, representing a significant step towards to the realization of a scalable quantum computer.

"The quantum socket is a wiring method that uses three-dimensional wires based on spring-loaded pins to address individual qubits," said Jeremy Béjanin, a PhD...

Im Focus: Scientists develop a semiconductor nanocomposite material that moves in response to light

In a paper in Scientific Reports, a research team at Worcester Polytechnic Institute describes a novel light-activated phenomenon that could become the basis for applications as diverse as microscopic robotic grippers and more efficient solar cells.

A research team at Worcester Polytechnic Institute (WPI) has developed a revolutionary, light-activated semiconductor nanocomposite material that can be used...

Im Focus: Diamonds aren't forever: Sandia, Harvard team create first quantum computer bridge

By forcefully embedding two silicon atoms in a diamond matrix, Sandia researchers have demonstrated for the first time on a single chip all the components needed to create a quantum bridge to link quantum computers together.

"People have already built small quantum computers," says Sandia researcher Ryan Camacho. "Maybe the first useful one won't be a single giant quantum computer...

Im Focus: New Products - Highlights of COMPAMED 2016

COMPAMED has become the leading international marketplace for suppliers of medical manufacturing. The trade fair, which takes place every November and is co-located to MEDICA in Dusseldorf, has been steadily growing over the past years and shows that medical technology remains a rapidly growing market.

In 2016, the joint pavilion by the IVAM Microtechnology Network, the Product Market “High-tech for Medical Devices”, will be located in Hall 8a again and will...

Im Focus: Ultra-thin ferroelectric material for next-generation electronics

'Ferroelectric' materials can switch between different states of electrical polarization in response to an external electric field. This flexibility means they show promise for many applications, for example in electronic devices and computer memory. Current ferroelectric materials are highly valued for their thermal and chemical stability and rapid electro-mechanical responses, but creating a material that is scalable down to the tiny sizes needed for technologies like silicon-based semiconductors (Si-based CMOS) has proven challenging.

Now, Hiroshi Funakubo and co-workers at the Tokyo Institute of Technology, in collaboration with researchers across Japan, have conducted experiments to...

All Focus news of the innovation-report >>>



Event News

#IC2S2: When Social Science meets Computer Science - GESIS will host the IC2S2 conference 2017

14.10.2016 | Event News

Agricultural Trade Developments and Potentials in Central Asia and the South Caucasus

14.10.2016 | Event News

World Health Summit – Day Three: A Call to Action

12.10.2016 | Event News

Latest News

Resolving the mystery of preeclampsia

21.10.2016 | Health and Medicine

Stanford researchers create new special-purpose computer that may someday save us billions

21.10.2016 | Information Technology

From ancient fossils to future cars

21.10.2016 | Materials Sciences

More VideoLinks >>>