GFM1
MIM.606639 3q25.1-q26.2
Different factors catalyze the 3 stages of protein translation: initiation, elongation, and termination. Eukaryotes contain 2 translational systems, one in the cytoplasm and one in the mitochondria.
In mitochondria, the elongation phase requires 3 elongation factors (EF): Tu (TUFM) (MIM.602389), Ts (TSFM) (MIM.604723), and G.
The mitochondrial translation system is responsible for the synthesis of 13 proteins required for oxidative phosphorylation (OXPHOS), the major energy-generating process of our cells.
Mitochondrial translation is controlled by various nuclear encoded proteins.
In patients with combined OXPHOS deficiencies, in whom complex II (the only complex that is entirely encoded by the nuclear DNA) showed normal activities, and mutations in the mitochondrial genome as well as polymerase gamma were excluded, all mitochondrial translation factors for mutations have been screened. (#21119709#)
Pathology
germline mutations of mitochondrial elongation factors EFG1 and EFTu in infantile encephalopathy with defective mitochondrial DNA translation (#17160893#)
Mutation in subdomain G’ of mitochondrial elongation factor G1 is associated with combined OXPHOS deficiency in fibroblasts but not in muscle. (#21119709#)
References
Mutation in subdomain G’ of mitochondrial elongation factor G1 is associated with combined OXPHOS deficiency in fibroblasts but not in muscle. Smits P, Antonicka H, van Hasselt PM, Weraarpachai W, Haller W, Schreurs M, Venselaar H, Rodenburg RJ, Smeitink JA, van den Heuvel LP. Eur J Hum Genet. 2011 Mar;19(3):275-9. PMID: #21119709#
Valente L, Tiranti V, Marsano RM, Malfatti E, Fernandez-Vizarra E, Donnini C, Mereghetti P, De Gioia L, Burlina A, Castellan C, Comi GP, Savasta S, Ferrero I, Zeviani M. Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu. Am J Hum Genet. 2007 Jan;80(1):44-58. PMID: #17160893#