Research on Barth Syndrome Reported by a Researcher at Johns Hopkins University School of Medicine (Stem cell models of TAFAZZIN deficiency reveal novel tissue-specific pathologies in Barth syndrome).

Research on Barth Syndrome conducted by a researcher at Johns Hopkins University School of Medicine focuses on the rare mitochondrial disease caused by pathogenic variants in the gene TAFAZZIN. The study explores tissue-specific pathologies in Barth syndrome, including cardiomyopathy, neutropenia, skeletal myopathy, and growth delays. The research highlights the implications for understanding the tissue-specific pathology of Barth syndrome and potential therapeutic targeting, emphasizing the role of mitophagy in cardiac pathophysiology and revealing neuron-specific bioenergetic phenotypes. [Extracted from the article]