A human pathology-related mutation prevents import of an aminoacyl-tRNA synthetase into mitochondria.

Marie Messmer (1) , Catherine Florentz (1) , Hagen Schwenzer (1) , Gert C Scheper (2) , Marjo S van Der Knaap (2) , Laurence Maréchal-Drouard (3) , Marie Sissler (1)

1 ARN - Architecture et Réactivité de l'ARN
2 Department of Pediatrics and Child Neurology
3 IBMP - Institut de Biologie Moléculaire des Plantes

Mutations in the nuclear gene coding for the mitochondrial aspartyl-tRNA synthetase, a key enzyme for mitochondrial translation, are correlated with leukoencephalopathy. A Ser45 to Gly45 mutation is located in the predicted targeting signal of the protein. We demonstrate in the present study, by in vivo and in vitro approaches, that this pathology-related mutation impairs the import process across mitochondrial membranes.

Domaines: Biochimie, Biologie Moléculaire

Marie Messmer, Catherine Florentz, Hagen Schwenzer, Gert C Scheper, Marjo S van Der Knaap, et al.. A human pathology-related mutation prevents import of an aminoacyl-tRNA synthetase into mitochondria.. Biochemical Journal, 2011, 433 (3), pp.441-6. ⟨10.1042/BJ20101902⟩. ⟨hal-00561407⟩