New finding important to heart health, also changed faculty member's entire research path

June 1, 2012, University of Alberta Faculty of Medicine & Dentistry

Medical scientist Howard Young's research has taken a dramatic, unexpected turn in the last few months, thanks to a serendipitous chain of events that could lead to a genetic test that can predict heart failure in certain people before it happens.

It started when members of his team, Delaine Ceholski and Cathy Trieber, discovered a new mutation in a protein called phospholamban, which they predicted would cause the heart to be less responsive to changes in the body and eventually lead to . One month after submitting their paper to the for review, their work was validated when – in completely separate research – the mutation was found in two in Brazil.

"We predicted it exactly," said Young, an associate professor in the Faculty of Medicine & Dentistry's Department of Biochemistry and researcher with the National Institute of Nanotechnology. "It's interesting, because as basic researchers you feel like you have to constantly defend your research and how relevant test-tube work is to patients... and then one day, to our surprise, we were right.

"I expected to be right, but not in the time frame that occurred. It happened quickly."

Shortly after that, Young was asked to speak at the Centennial Lectures, a speakers series offered by the faculty as a lead-up to the medical school's centennial year in 2013 to spotlight the translational work of its researchers.

Young was paired with cardiologist and researcher Justin Ezekowitz of the Department of Medicine. Each became interested in the work of the other, and now the two are pairing up to screen patients' blood samples for mutations in the phospholamban protein.

"If someone had asked me last September if we'd ever get into sequencing patients' genes and trying to discover mutants, I would say 'no, you're wrong,' " said Young. "But now we're very interested in starting large sequencing

studies to try and find more mutations." Through his research, Young thinks he has established good prediction models for heart disease. If his research group finds a mutation in phospholamban through blood screening, Young believes he can predict the severity of the mutation and whether or not it will be associated with disease.

"It will be truly personalized medicine," said Young. "If we know they [patients] have a mutation before disease, monitoring and early treatment could improve and extend the quality of life for these patients."

Young and researchers in his lab will look at blood samples from about 750 patients at the Mazankowski Alberta Heart Institute. Young expects to find at least two or three people with a mutation in phospholamban.

They'll also look for other mutations that have not been previously discovered. "There's a related protein to phospholamban in the skeletal muscle and the atria of the , so we're branching out and going to see if we can identify new mutations, because no have been identified in that ," he said.

Explore further: First genetic mutation linked to heart failure in pregnant women

Related Stories

First genetic mutation linked to heart failure in pregnant women

June 21, 2011
Researchers at the Intermountain Medical Center Heart Institute in Salt Lake City have identified the first genetic mutation ever associated with a mysterious and potentially devastating form of heart disease that affects ...

Genetic mutation implicated in 'broken' heart

February 15, 2012
For decades, researchers have sought a genetic explanation for idiopathic dilated cardiomyopathy (DCM), a weakening and enlargement of the heart that puts an estimated 1.6 million Americans at risk of heart failure each year. ...

Professor links gene mutations with heart disease precursors

May 17, 2012
(Medical Xpress) -- It may be easier in the future to test and potentially provide early treatment for the one in 500 people affected by hypertrophic cardiomyopathy.

Discovery of genetic mutations better diagnose myelodysplastic syndromes

June 30, 2011
For patients with myelodysplastic syndromes (MDS), choosing the appropriate treatment depends heavily on the prognosis. Those patients at the highest risk of dying from their disease are typically offered the most aggressive ...

Recommended for you

Researchers illustrate how muscle growth inhibitor is activated, could aid in treating ALS

January 19, 2018
Researchers at the University of Cincinnati (UC) College of Medicine are part of an international team that has identified how the inactive or latent form of GDF8, a signaling protein also known as myostatin responsible for ...

Bioengineered soft microfibers improve T-cell production

January 18, 2018
T cells play a key role in the body's immune response against pathogens. As a new class of therapeutic approaches, T cells are being harnessed to fight cancer, promising more precise, longer-lasting mitigation than traditional, ...

Weight flux alters molecular profile, study finds

January 17, 2018
The human body undergoes dramatic changes during even short periods of weight gain and loss, according to a study led by researchers at the Stanford University School of Medicine.

Secrets of longevity protein revealed in new study

January 17, 2018
Named after the Greek goddess who spun the thread of life, Klotho proteins play an important role in the regulation of longevity and metabolism. In a recent Yale-led study, researchers revealed the three-dimensional structure ...

The HLF gene protects blood stem cells by maintaining them in a resting state

January 17, 2018
The HLF gene is necessary for maintaining blood stem cells in a resting state, which is crucial for ensuring normal blood production. This has been shown by a new research study from Lund University in Sweden published in ...

Magnetically applied MicroRNAs could one day help relieve constipation

January 17, 2018
Constipation is an underestimated and debilitating medical issue related to the opioid epidemic. As a growing concern, researchers look to new tools to help patients with this side effect of opioid use and aging.

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.