Featured Research

from universities, journals, and other organizations

Research breakthroughs advance understanding of genetic causes of vascular disease

Date:
January 6, 2014
Source:
University of Lincoln
Summary:
The world’s leading voices in the fight against pulmonary hypertension have compiled a special publication detailing the breakthrough research into the causes of this debilitating vascular disease.

The world's leading voices in the fight against Pulmonary Hypertension have compiled a special publication detailing the breakthrough research into the causes of this debilitating vascular disease.

Co-author Dr Rajiv Machado, from the School of Life Sciences, University of Lincoln, UK, attended the World Symposium on Pulmonary Hypertension in 2013 as an invited member of the symposium's genetics and genomics task-force.

Papers arising from this conference, which brought together the most respected clinicians and scientists in the field, have now been compiled in a special edition of Journal of the American College of Cardiology.

The symposium, which discussed several forms of resistance in lung vessels including those associated with common disorders such as congenital heart disease and HIV, resulted in a powerful consensus around key issues and recommendations.

The replication and extension of these studies should serve to further define the genetic landscape surrounding vascular disease.

Dr Machado said: "The aim of the symposium was to report new information and how this could then be translated into clinical medicine by providing novel targets for therapy. The results have now been published as the definitive scientific consensus on this area of disease."

Dr Machado's main research focuses on Pulmonary Arterial Hypertension (PAH), a progressive disorder characterized by abnormally high blood pressure (hypertension) in the pulmonary artery, the blood vessel that carries blood from the heart to the lungs.

Symptoms include shortness of breath, dizziness, swelling (oedema) of the ankles or legs, chest pain and a racing pulse.

Dr Machado was part of a team that discovered the primary gene that causes PAH and has since gone on to investigate the disease pathway, isolating more contributory genetic mutations.

As reported at the symposium, Dr Machado's investigation of 300 patients with disparate forms of PAH -- the largest study of its kind -- resulted in the identification of three novel genes which appear to cause pulmonary dysfunction.

A process called next generation sequencing (NGS) was used to exclude the likelihood of the observed genetic variation being present in the general population.

In a separate study, colleagues reported two additional genetic causes of disease present only in PAH patients and, intriguingly, a genetic variant enriched among patients but present in all of us.

Dr Machado said taken together the findings presented promising new avenues for research.

"It is extremely rare to find this form of variation in a disease like this," he said. "Identification of this alteration may provide a new target for PAH treatment. It has wide ranging significance to our understanding of lung disease. It all contributes to the genetic architecture of the disease and our understanding of what causes it."

Dr Machado is now working on population-specific genetic patterns, looking at two subsets of PAH, including an Indian group which has no family history of the disease. He will use next generation sequencing to drive a baseline genetic profile of this previously unstudied population.

Dr Machado will also carry out full DNA sequencing to interrogate the causes of childhood PAH, a particularly severe form of disease which is currently not well understood.


Story Source:

The above story is based on materials provided by University of Lincoln. Note: Materials may be edited for content and length.


Journal Reference:

  1. Florent Soubrier, Wendy K. Chung, Rajiv Machado, Ekkehard Grünig, Micheala Aldred, Mark Geraci, James E. Loyd, C. Gregory Elliott, Richard C. Trembath, John H. Newman, Marc Humbert. Genetics and Genomics of Pulmonary Arterial Hypertension. Journal of the American College of Cardiology, 2013; 62 (25): D13 DOI: 10.1016/j.jacc.2013.10.035

Cite This Page:

University of Lincoln. "Research breakthroughs advance understanding of genetic causes of vascular disease." ScienceDaily. ScienceDaily, 6 January 2014. <www.sciencedaily.com/releases/2014/01/140106094432.htm>.
University of Lincoln. (2014, January 6). Research breakthroughs advance understanding of genetic causes of vascular disease. ScienceDaily. Retrieved September 21, 2014 from www.sciencedaily.com/releases/2014/01/140106094432.htm
University of Lincoln. "Research breakthroughs advance understanding of genetic causes of vascular disease." ScienceDaily. www.sciencedaily.com/releases/2014/01/140106094432.htm (accessed September 21, 2014).

Share This



More Health & Medicine News

Sunday, September 21, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Sierra Leone in Lockdown to Control Ebola

Sierra Leone in Lockdown to Control Ebola

AP (Sep. 21, 2014) — Sierra Leone residents remained in lockdown on Saturday as part of a massive effort to confine millions of people to their homes in a bid to stem the biggest Ebola outbreak in history. (Sept. 20) Video provided by AP
Powered by NewsLook.com
Sierra Leone's Nationwide Ebola Curfew Underway

Sierra Leone's Nationwide Ebola Curfew Underway

Newsy (Sep. 20, 2014) — Sierra Leone is locked down as aid workers and volunteers look for new cases of Ebola. Video provided by Newsy
Powered by NewsLook.com
Changes Found In Brain After One Dose Of Antidepressants

Changes Found In Brain After One Dose Of Antidepressants

Newsy (Sep. 19, 2014) — A study suggest antidepressants can kick in much sooner than previously thought. Video provided by Newsy
Powered by NewsLook.com
Could Grief Affect The Immune Systems Of Senior Citizens?

Could Grief Affect The Immune Systems Of Senior Citizens?

Newsy (Sep. 19, 2014) — The study found elderly people are much more likely to become susceptible to infection than younger adults going though a similar situation. Video provided by Newsy
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
 
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:  

Breaking News:
from the past week

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



Save/Print:
Share:  

Free Subscriptions


Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

Get Social & Mobile


Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

Have Feedback?


Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
Mobile iPhone Android Web
Follow Facebook Twitter Google+
Subscribe RSS Feeds Email Newsletters
Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins