RARE Daily

Barth Syndrome Foundation and American Heart Association Collaborate to Advance Research

Rare Daily Staff

June 2, 2021

Barth Syndrome Foundation and American Heart Association 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 is designed to encourage early-career investigators to explore the underlying pathology of cardiomyopathy in Barth syndrome or involving cardiolipin. The AHA/BSF fellowship was awarded to Nanami Senoo, a postdoctoral fellow and member of the Mitochondrial Phospholipid Research Center at Johns Hopkins University. Under the jointly funded fellowship, Senoo will explore the relationship between cardiolipin and the nucleotide transporter ANT1 and potential implications to individuals with Barth syndrome.

The collaboration between the two organizations marks a strategic investment by BSF to broaden its impact by joining forces to accelerate progress through science and education.

“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,” said Erik Lontok, director of research for the Barth Syndrome Foundation. “And Dr. Senoo’s proposed work has the potential to increase understanding of how cardiolipin functions in heart cells and answer whether ANT1 plays a role in Barth syndrome disease biology.”

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, more than 70 percent of affected individuals with Barth syndrome present with cardiac complications. In fact, 17 percent of patients with Barth syndrome ultimately receive a heart transplant due to cardiac failure, and 13 percent 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,” said Lontok.

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