Using high throughput screens in yeast to investigate the pathomechanism of Barth syndrome

01/05/2016 to 30/04/2017

Barth syndrome occurs due to mutations in the mitochondrial protein, Tafazzin – a key enzyme in remodeling of the specific mitochondrial phospholipid, cardiolipin (CL). Our general aim is to understand in depth the biology underlying the pathophysiology of Barth syndrome. To do this we will follow three major aims: (i) Uncover the human Cardiolipin Phospholipase A, (ii) Map the cellular effects of losing Taffazin function and re-modeled cardiolipin, and (iii) Decipher the pathways enabling correct localization of yeast Taffazin.