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Opinion|Videos|November 13, 2026
The Science Behind Barth Syndrome: TAZ and Cardiolipin
Author(s)Hilary Vernon, MD, PhD , Majid Husain, MD
Dr. Vernon explains that TAZ gene mutations disrupt cardiolipin remodeling in the inner mitochondrial membrane, leading to buildup of immature monolysocardiolipin and impaired ATP synthesis that underlies all major clinical features, while Dr. Husain frames energy demand across life stages (feeding in infancy, recess activity in school age, declining exercise tolerance in adulthood) and the panel discusses the dual burden of cardiac and skeletal muscle dysfunction that makes fatigue difficult to attribute to either.
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Episodes in this series
Dr. Vernon explains the molecular basis: TAZ gene mutations disrupt cardiolipin remodeling in the inner mitochondrial membrane, causing accumulation of immature monolysocardiolipin and impaired ATP synthesis. This mitochondrial energy failure underlies all major clinical features. Dr. Husain contextualizes energy demand by life stage -- feeding as a metabolic stress test in infancy, recess activity in school age, exercise tolerance decline in adulthood. The panel also discusses the dual burden of cardiac and skeletal muscle dysfunction and difficulty attributing fatigue to either.
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