NIH R01 · 2024
Tafazzin and metabolic reprogramming during cardiomyopathy
PROJECT SUMMARY / ABSTRACT Barth syndrome (BTHS) is a genetic disorder due to mutations in the X-linked tafazzin (TAZ) gene encoding an enzyme required for the functioning of mitochondria, the energy powerhouses of our cells. Patients with inherited TAZ mutations suffer from a wide range of clinical manifestations, from neutropenia to severe left ventricular noncompaction cardiomyopathy and skeletal muscle weakness. Other mitochondrial diseases produce similar but not identical symptoms, possibly reflecting distinct types of mitochondrial impairment in different tissues. Thus, understanding of molecular pathogenesis of BTHS and other mitochondriopathies is highly significant for the health…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.