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Barth Syndrome Foundation and American Heart Association Collaborate to Advance Research Knowledge Around Cardiac Complications of a Rare Disease

Fellowship awarded to explore cardiolipin's role in nucleotide transport, specifically in cells lacking TAFAZZIN


News provided by

Barth Syndrome Foundation

Jun 01, 2021, 08:00 ET

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BOSTON, June 1, 2021 /PRNewswire-PRWeb/ -- Barth Syndrome Foundation (BSF) and American Heart Association (AHA) have co-funded a first-ever, two-year postdoctoral fellowship to advance research around cardiac complications associated with Barth syndrome, a rare, life-threatening, mitochondrial disease. The AHA/BSF fellowship award goes to Dr. Nanami Senoo, a postdoctoral fellow and member of the Mitochondrial Phospholipid Research Center at Johns Hopkins University. Under the jointly funded fellowship, Dr. Senoo will explore the relationship between cardiolipin and the nucleotide transporter ANT1 and potential implications to individuals with Barth syndrome. This important collaboration between the AHA and BSF marks a strategic investment by BSF to broaden its impact by joining forces to accelerate progress through science and education.

Barth syndrome is a rare, X-linked, inborn error of metabolism characterized by cardiomyopathy, cardiolipin deficiency, musculoskeletal weakness, neutropenia, debilitating fatigue, growth delay, and hypoglycemia, among other clinical manifestations. The disease most commonly affects boys but has been reported in females and is associated with a genetic mutation in the TAFAZZIN gene causing abnormal cardiolipin remodeling and impaired mitochondrial structure. As a result, over 70% of affected individuals with Barth syndrome present with cardiac complications. In fact, 17% of patients with Barth syndrome ultimately receive a heart transplant due to cardiac failure, and 13% are treated with internal pacemaker devices due to life-threatening arrhythmias. Advancing knowledge of cardiolipin's role in cardiomyopathies associated with Barth syndrome is one of several critical research pillars for BSF. In alignment with the broader collaborative mission of AHA, cardiolipin abnormalities have been observed in other more common conditions including ischemia, congestive heart failure, and diabetes. "It is our goal that this effort advances Barth syndrome science while also serving as a collaborative template for other potential partners with shared clinical indications and research interests," says BSF's Director of Research Erik Lontok PhD.

As we serve an ultra-rare community heavily impacted by cardiomyopathy, this research collaboration is an opportunity for Barth Syndrome Foundation to leverage the scale, expertise, and infrastructure of non-profit leaders like American Heart Association.

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Senoo will expand on the important role of cardiolipin in mitochondrial energy production by investigating the structural and mechanistic relationship between cardiolipin and the nucleotide transporter ANT1 in human cells. The AHA/BSF fellowship is designed to encourage early-career investigators to explore the underlying pathology of cardiomyopathy in Barth syndrome or involving cardiolipin. "As we serve an ultra-rare community heavily impacted by cardiomyopathy, this research collaboration is an opportunity to leverage the scale, expertise, and infrastructure of non-profit leaders like AHA," says Erik Lontok, "And Dr. Senoo's proposed work has the potential increase understanding of how cardiolipin functions in heart cells and answer whether ANT1 plays a role in Barth syndrome disease biology."

The fellowship was made possible by a newly launched funding program from BSF and the American Heart Association for investigator-initiated career development and knowledge discovery projects that directly involve Barth syndrome or cardiolipin research. Administered and peer-reviewed by AHA, pre-doctoral and post-doctoral applications are due September 14th and 15th, respectively.

ABOUT BARTH SYNDROME FOUNDATION (BSF)
Barth Syndrome Foundation and our international affiliates comprise the only global network of families, healthcare providers, and researchers solely driven by the mission to save lives through education, advances in treatment and finding a cure for Barth syndrome. Considered a role model in rare disease advocacy, BSF has funded nearly $5.85M USD to over 52 global institutions and catalyzed over $33M USD in funding from other agencies to advance global scientific discoveries to end the suffering and loss of life from Barth syndrome. Additionally, BSF provides a lifeline to families and individuals living with Barth syndrome around the world, offering individualized support, educational conferences, a patient registry and collaborations with specialist healthcare providers to define standards of care, treatment and rapid diagnosis.

ABOUT THE AMERICAN HEART ASSOCIATION
The American Heart Association is a relentless force for a world of longer, healthier lives. We are dedicated to ensuring equitable health in all communities. Through collaboration with numerous organizations, and powered by millions of volunteers, we fund innovative research, advocate for the public's health and share lifesaving resources. The Dallas-based organization has been a leading source of health information for nearly a century. Connect with us on heart.org, Facebook, Twitter or by calling 1-800-AHA-USA1.

Media Contact

Emily Milligan, Barth Syndrome Foundation, +1 (646) 937-4123, [email protected]

Twitter, Facebook

SOURCE Barth Syndrome Foundation

Related Links

https://barthsyndrome.org

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