Rare mutations may help explain aneurysm in high-risk families

American Stroke Association late-breaking science report - abstract LB11-4394

2012-02-06

(Press-News.org) An innovative approach to genome screening has provided clues about rare mutations that may make people susceptible to brain aneurysms, predisposing them to brain bleeds, according to preliminary late-breaking research presented at the American Stroke Association's International Stroke Conference 2012.

For the first time, scientists applied a process called whole exome sequencing to seek gene mutations in families in which multiple relatives have intracranial aneurysms, a condition in which weakened, ballooned-out areas in arteries of the brain can rupture and cause a stroke.

Instead of sequencing the entire genome, whole exome screening focuses on the small portion of the genetic blueprint that provides instructions for making proteins. This approach allows researchers to look for rare variations in the genetic code.

"For families with many people affected, it may be likely that a rare mutation leads to a problem in blood vessel structure or function that puts them at much higher risk," said Joseph P. Broderick, M.D., lead author and professor and chairman of the Department of Neurology at the University of Cincinnati Neuroscience Institute in Ohio.

Studying 32 affected people from seven families, the researchers found more than 100,000 genetic variants compared to the reference alleles in the general population who had been previously sequenced.

"It goes to show that we all carry rarer variants, so in such a study we need to narrow them down to the disease in question," Broderick said.

Focusing on categories of genes relevant to blood vessel structure and function, and insuring that at least three affected family members in a family shared a given variant, the researchers narrowed the initial findings to 27 variants in 19 genes.

In a close analysis of one family, researchers found variations in genes for producing collagen, a connective tissue abundant in blood vessels and other tissues. One gene, collagen 5-A2, has been previously linked to Ehlers-Danlos syndrome – a group of inherited connective tissue disorders marked by extremely loose joints with musculoskeletal damage, hyperelastic skin, and easily damaged blood vessels. However, collagen 5-A2 has not been previously linked to the type of Ehlers-Danlos associated with fragile blood vessels or aneurysms.

"Exome sequencing is an exciting new tool for studying how genes are related to various diseases. Using this technique, we may be able to find the relevant genetic variants in a particular family and screen unaffected people in the family for their aneurysm risk," Broderick said.

"It's an example of personalized medicine, but it's currently not easy or simple and our learning curve is currently very steep since we need to determine if these variants are truly causal."

A person's risk, such as in this family, may involve several variants in several genes, plus environmental exposures such as smoking, he said.

###Co-authors are: Robert D. Brown, M.D.; Laura Sauerbeck, R.N., M.S.N.; John Huston III, M.D.; Daniel Woo, M.D.; Ranjan Deka, Ph.D.; Bradford Worrall, M.D., M.Sc.; Irene Meisner, M.D.; Nerissa Ko, M.D.; E. Sander Connelly, Jr., M.D.; Guy Rouleau, M.D., Ph.D.; Craig Anderson, M.D.; Carl Langefeld, Ph.D.; Hua Ling, Ph.D.; Kurt Hetrick, M.S.; Elizabeth Pugh, Ph.D.; Kimberly Doheny, Ph.D.; Dongbing Lai, M.S.; Hai Lin, B.S.; Daniel Killer, Ph.D.; Janice Farlow, B.S.; and Tatiana Foroud, Ph.D.

Author disclosures are on the abstract.

The National Institute of Neurological Disorders and Stroke funded the research.

Statements and conclusions of study authors that are presented at American Heart Association scientific meetings are solely those of the study authors and do not necessarily reflect association policy or position. The association makes no representation or warranty as to their accuracy or reliability. The association receives funding primarily from individuals; foundations and corporations (including pharmaceutical, device manufacturers and other companies) also make donations and fund specific association programs and events. The association has strict policies to prevent these relationships from influencing science content. Revenues from pharmaceutical and device corporations are available at http://www.heart.org/corporatefunding.

NR12-1025 (ISC 2012/Broderick)

(Note: Actual presentation is 12:36 p.m. CT, Friday, Feb. 3, 2012)

Additional resources: All downloadable video/audio interviews, B-roll, animation and images related to this news release are located on the right column of the release link located at http://newsroom.heart.org/pr/aha/_prv-clopidogrel-with-aspirin-doesn-228204.aspx General ISC video and ISC photos available at http://www.newsroom.heart.org/ISC12-Video or http://www.newsroom.heart.org/ISC12-Photos. Follow news from ASA International Stroke Conference 2012 via Twitter: http://twitter.com/#!/heartnews. Follow #ASANews12.

ELSE PRESS RELEASES FROM THIS DATE:

Warfarin and aspirin are similar in heart failure treatment

2012-02-06

In the largest and longest head-to-head comparison of two anti-clotting medications, warfarin and aspirin were similar in preventing deaths and strokes in heart failure patients with normal heart rhythm, according to late-breaking research presented at the American Stroke Association's International Stroke Conference 2012. "Although there was a warfarin benefit for patients treated for four or more years, overall, warfarin and aspirin were similar," said Shunichi Homma, M.D., lead author of the study and the Margaret Milliken Hatch Professor of Medicine at Columbia University ...

Scientists chart high-precision map of Milky Way's magnetic fields

2012-02-06

Scientists at the Naval Research Laboratory (NRL) are part of an international team that has pooled their radio observations into a database, producing the highest precision map to date of the magnetic field within our own Milky Way galaxy. The team, led by the Max Planck Institute for Astrophysics (MPA), used the database they created and were able to apply information theory techniques to produce the map, explains NRL's Dr. Tracy Clarke, a member of the research team. "The key to applying these new techniques is that this project brings together over 30 researchers ...

A new study shows how to boost the power of pain relief, without drugs

2012-02-06

Placebos reduce pain by creating an expectation of relief. Distraction—say, doing a puzzle—relieves it by keeping the brain busy. But do they use the same brain processes? Neuromaging suggests they do. When applying a placebo, scientists see activity in the dorsolateral prefrontal cortex. That's the part of the brain that controls high-level cognitive functions like working memory and attention—which is what you use to do that distracting puzzle. Now a new study challenges the theory that the placebo effect is a high-level cognitive function. The authors—Jason T. Buhle, ...

Schooling protects fleeing children from disease

2012-02-06

Refugee children have scant access to medical care and are particularly vulnerable to disease. Fresh research results from the University of Copenhagen show that just a few hours of schooling a week may have a pronounced positive impact on their health not only in childhood but later in life when they achieve adulthood. "There is an unambiguous link between health and schooling among refugee groups as they flee," says external Associate Professor Tania Dræbel, PhD from the Department of Public Health, University of Copenhagen, where she works as an expert in health among ...

The complex relationship between memory and silence

2012-02-06

People who suffer a traumatic experience often don't talk about it, and many forget it over time. But not talking about something doesn't always mean you'll forget it; if you try to force yourself not to think about white bears, soon you'll be imagining polar bears doing the polka. A group of psychological scientists explore the relationship between silence and memories in a new paper published in Perspectives on Psychological Science, a journal of the Association for Psychological Science. "There's this idea, with silence, that if we don't talk about something, it starts ...

UC San Diego Moores Cancer Center offers new hope for deadly brain tumor

2012-02-06

Jim Black is fighting the meanest, most aggressive, most common kind of brain tumor in the United States: recurrent glioblastoma multiforme (GBM). In the United States, each year, approximately 10,000 patients are affected by GBM. Now, a novel investigational device – available only at clinical trial sites – is offering new hope to these patients. The non-invasive procedure – called Tumor Treating Fields (TTF) – is delivered using a portable device – called the NovoTTF-100A System made by Novocure. The TTF procedure uses alternating electrical fields to disrupt the ...

Largest Bin Database Service Released

2012-02-06

BinDataSet, an BIN database service provider, has released the largest BIN database on the Internet. The database contains over 350,000 records. What is BIN? BIN stands for Bank Identification Numbers. It is a database that contains credit and debit card numbers. On top of that, the database also provides additional information such as Country, Brand, and Bank. Most BIN databases provide only card type and brand. BinDataSet ensures that more fields are available for higher accuracy. Why is there a need for BIN databases? The Internet is growing at an amazing ...

New device removes stroke-causing blood clots better than standard treatment

2012-02-06

An experimental device for removing blood clots in stroke patients dramatically outperformed the standard mechanical treatment, according to research presented by UCLA Stroke Center director Dr. Jeffrey L. Saver at the American Stroke Association's 2012 international conference in New Orleans on Feb. 3. The SOLITAIRE Flow Restoration Device is among an entirely new generation of devices designed to remove blood clots from blocked brain arteries in patients experiencing stroke. It has a self-expanding, stent-like design and, once inserted into a clot using a thin catheter ...

Coughing and other respiratory symptoms improve within weeks of smoking cessation

2012-02-06

New Rochelle, NY -- If the proven long-term benefits of smoking cessation are not enough to motivate young adults to stop smoking, a new study shows that 18- to 24-year olds who stop smoking for at least two weeks report substantially fewer respiratory symptoms, especially coughing. The study findings are detailed in Pediatric Allergy, Immunology, and Pulmonology, a peer-reviewed journal published by Mary Ann Liebert, Inc. The article is available online. Karen Calabro, DrPH and Alexander Prokhorov, MD, PhD, The University of Texas MD Anderson Cancer Center, Houston, ...

The Motorsport Lab Teams Up with Kaspersky Lab to Create an Unforgettable Corporate Ferrari Driving Experience Program

2012-02-06

As you are planning to create a corporate sales incentive program, look no further than The Motorsport Lab's supercar media. According to President and Founder Ray Chang, the purpose of The Motorsport Lab is to create a fun, exciting and once in a lifetime, interactive corporate experience using high-end supercars like Ferrari, Aston Martin and Lamborghini as a media platform. "Our difference is that we utilize supercars as a fun, versatile media platform for businesses to communicate value. Supercars offer aesthetic beauty inside and out will command instant ...

The Lancet Obstetrics, Gynecology, & Women’s Health: Taking paracetamol during pregnancy does not increase risk of autism, ADHD or intellectual disabilities, confirms new gold-standard evidence review

Rare mutations may help explain aneurysm in high-risk families

ELSE PRESS RELEASES FROM THIS DATE:

LAST 30 PRESS RELEASES: