Scientists trace the molecular roots of potentially fatal heart condition

At a glance:

Research using heart cells from squirrels, mice and people identifies an evolutionary mechanism critical for heart muscle function

Gene defect that affects a protein found in the heart muscle interferes with this mechanism to cause hypertrophic cardiomyopathy, a potentially fatal heart condition

Imbalance in the ratio of active and inactive protein disrupts heart muscle’s ability to contract and relax normally, interferes with heart muscle’s energy consumption

Treatment with a small-molecule drug restores proper contraction, energy consumption in human and rodent heart cells

If affirmed in subsequent studies, the results can inform therapies that could halt disease progression, help prevent common complications, including arrhythmias and heart failure

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Therapy dog lifts patients’ hearts

Kepu Savou thought he had come down with a cold. When his symptoms persisted, he visited a doctor and learned that his heart was failing – something Savou never would’ve imagined at age 29.

He has been an inpatient at UW Medical Center, awaiting a donor heart for transplant. While the monthslong experience has been difficult, he says a program called Paws for Patients has provided much-needed emotional support. Program volunteers bring registered therapy dogs to visit patients who face challenging medical conditions.

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Sleep & Endurance Performance, Female Racers, Reducing Falls, Youth Fitness & More from the Journal of Medicine & Science in Sports & Science®

If you’re looking for health and fitness story ideas, view these research highlights from Exercise and Sport Sciences Reviews and Medicine & Science in Sports & Exercise®, ACSM’s flagship journal.

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Genetic Breakthrough Identifies Heart Failure Risk in African and Latino Americans

Findings may inform genetic screening test for patients at risk and medically under-served

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Genetic Variant Largely Found in Patients of African Descent Increases Risk for Heart Failure

A genetic variant in the gene transthyretin (TTR) is a more significant cause of heart failure than previously believed. The study also revealed that a disease caused by this genetic variant, called hereditary transthyretin amyloid cardiomyopathy, is significantly underdiagnosed.

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Stem Cell Therapy Helps Broken Hearts Heal in Unexpected Way

A study in Nature shows stem cell therapy helps hearts recover from a heart attack, although not for the biological reasons originally proposed two decades ago that today are the basis of ongoing clinical trials. The study reports that injecting living or even dead heart stem cells into the injured hearts of mice triggers an acute inflammatory process, which in turn generates a wound healing-like response to enhance the mechanical properties of the injured area.

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Researchers Discover New Mutations in Gene Associated with Disease That Causes Weakening of the Heart

Researchers from the Intermountain Healthcare Heart Institute in Salt Lake City have identified new mutations in a gene commonly associated with non-ischemic dilated cardiomyopathy (NIDC), a disease that weakens the heart muscle, making it more difficult to adequately circulate blood to meet the body’s needs.

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Artificial Intelligence Tool Predicts Life Expectancy in Heart Failure Patients

Researchers at University of California San Diego School of Medicine, as well as a diverse team of cardiologists and physicists, developed a machine learning algorithm to predict the life expectancy in heart failure patients.

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