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

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

1 ARN - Architecture et Réactivité de l'ARN

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

Mots clés: Life Sciences

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.441-446. ⟨10.1042/BJ20101902⟩. ⟨hal-00558103⟩