Deficient methylation and formylation of mt-tRNAMet wobble cytosine in a patient lacking NSUN3

New article from the Frye Lab in Nature Communications

Mitochondrial disease is a chronic, genetic disorder caused by dysfunctional mitochondria, the organelles that generate energy for cells. Researchers used patient cells to identify a novel mechanism causing mitochondria to fail: Loss-of-function mutations in an enzyme called NSUN3 prevents the synthesis of proteins in mitochondria, and thereby leaving them non-functional. 

Publications details:

Van Haute L, Dietmann S, Kremer L, Hussain S, Pearce SF, Powell CA, Rorbach J, Lantaff R, Blanco S, Sauer S, Kotzaeridou U, Hoffmann GF, Memari Y, Kolb-Kokocinski A, Durbin R, Mayr JA, Frye M, Prokisch H, Minczuk M. Deficient methylation and formylation of mt-tRNA(Met) wobble cytosine in a patient carrying mutations in NSUN3. Nature Communications. 2016 Jun 30;7:12039. PMID: 27356879