Barth Syndrome | Cause
The cause of Barth syndrome is hard to explain in layman’s terms. The genetic and molecular pathology of Barth syndrome are explained by experts as mutations in the BTHS gene, G4.5 tafazzin (TAZ). Tafazzin (TAZ) gene or TAZ mRNA is located at Xq28. It is associated with cardiolipin molecules in the electron transport chain and the mitochondrial membrane structure. Barth syndrome is found exclusively in males.
According to Wikipedia, Barth Syndrome is caused by 60% frameshift, stop, or splice-site alterations and 30% change in protein’s charge. Hopkins Medicine website says, more than 50 different mutations in the Tafazzin or TAZ gene or TAZ mRNA have been found that have been predicted to entirely disrupt the function of the Barth proteins.
