Mitochondrial panel – pro
Mitochondria contain a double stranded DNA molecule denoted as mtDNA with a size of about 17000 bp containing 37 genes. The complex interaction of the mtDNA with the cellular DNA makes the diagnosis of mitochondrial genetic diseases difficult. The mtDNA is exposed to higher oxidative stress compared with the cellular DNA due to the generation of mitochondrial reactive oxygen
species (ROS) during the oxidative phosphorylation. Disorders can result from mtDNA point mutations and deletions as well as from mutations in cellular genes that interact with mitochondrial gene products.
Although the great majority of mitochondrial mutations cannot be treated, the providers want to make a specific diagnosis in case it is one that can have some treatment and to provide genetic counselling. Treatmennt is directed toward preventiosn of stroke, exercize and avoidance of certain anesthetics.
Sumit Parikh MD, Amy Goldstein MD, Mary Kay Koenig MD, Fernando Scaglia MD, Gregory M. Enns MD, Russell Saneto MD, PhD, Irina Anselm MD, Bruce H. Cohen MD, Marni J. Falk MD, Carol Greene MD, Andrea L. Gropman MD, Richard Haas MB BChir, MRCP, Michio Hirano MD, Phil Morgan MD, Katherine Sims MD, Mark Tarnopolsky MD, PhD, Johan L.K. Van Hove MD, Lynne Wolfe MS, CRNP & Salvatore DiMauro MD, Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society. Genetics in Medicine (2015) 17, 689701
Parikh S, Goldstein A, Koenig MK, et al. Practice patterns of mitochondrial disease physicians in North America. Part 1: diagnostic and clinical challenges. Mitochondrion 2014;14:2633.
PubMedArticle
Haas RH, Parikh S, Falk MJ, et al. The in-depth evaluation of suspected mitochondrial disease. Mol Genet Metab 2008;94:1637.