Wednesday, May 30, 2012

Therapies in inborn errors of oxidative metabolism

Therapies in inborn errors of oxidative metabolism. Manuel Schiff, Paule BĂ©nit, Howard T. Jacobs, Jerry Vockley and Pierre Rustin. Trends in Endocrinology & Metabolism, 29 May 2012, doi:10.1016/j.tem.2012.04.006.

Keywords: Mitochondrial diseases, mitochondrial dysfunction, 2000 genes, epigenetic and environmental factors, decreased ATP, targets and mechanism of action.

"The manifestations of mitochondrial dysfunction and the response to therapy vary between individuals". This statement by the authors of the paper shows perfectly the great difficulty of the FA's therapeutic approach, and may explain why do not exist two patients who progress in the same way, even siblings.