Project A13 - Letitia Prates Roma & Christoph Maack

Integrative consequences of defective mitochondrial Ca2+ uptake in Barth syndrome

Barth syndrome causes immune deficiency, muscle fatigue and heart failure in infant boys. This is caused by a defect in the gene encoding Tafazzin (Taz), which catalyzes the final step in the synthesis of cardiolipin, a key component of the inner mitochondrial membrane. We observed that in the hearts of Taz-deficient mice, mitochondrial Ca2+ uptake is compromised due to a loss of the Ca2+ uniporter protein. Since mitochondrial Ca2+ is required to match ATP supply to demand and to regenerate the antioxidative capacity, we will investigate whether the Ca2+ defect causes energetic deficit and oxidative stress in Taz-deficient mice, with the goal to find novel treatment options for Barth syndrome, a so far orphan disease.

Since mitochondrial Ca2+ is required to match ATP supply to demand and to regenerate the antioxidative capacity, we will investigate whether the Ca2+ defect causes energetic deficit and oxidative stress in Taz-deficient mice, with the goal to find novel treatment options for Barth syndrome, a so far orphan disease.