Barth syndrome (BTHS) is a rare mitochondrial dysfunction related condition characterized by cardiomyopathy, skeletal myopathy, left ventricular non-compaction, abnormal fatigability, and neutropenia. BTHS is primarily associated with mutation in tafazzin (TAZ) gene, which results in pathological remodeling of cardiolipin (CL). CL is an essential constituent of mitochondrial membranes and plays an important role in many mitochondrial functions including respiration and energy conversion. Pathological changes or deficiency in CL leads to a series of mitochondria associated dysfunctions. In the present study, we are using FDA approved poly lactic co-glycolic acid (PLGA) and CL to create a mitochondrion targeted biodegradable CL-based nanoparticle to increase CL and decrease oxidative stress in BTHS patient for overall therapeutic outcome. We are conducting our studies in wild type induced pluripotent stem cell (iPSC) and TAZ knockout iPSC which were generated from BTHS patient. Findings from these studies may have therapeutic effects in BTHS patients.

Delivery of cardiolipin to the mitochondria for Barth syndrome

2019 Spring National Meeting

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