A human pathology-related mutation prevents import of an aminoacyl-tRNA synthetase into mitochondria.
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.
Université de Strasbourg, CNRS, IBMC, Strasbourg, France.
Marie
M
Messmer
Catherine
C
Florentz
Hagen
H
Schwenzer
Gert C
GC
Scheper
Marjo S
MS
van der Knaap
Laurence
L
Maréchal-Drouard
Marie
M
Sissler
D001226:Aspartate-tRNA Ligase / Q000235:genetics* / Q000378:metabolism*; D002460:Cell Line; D006801:Humans; D056784:Leukoencephalopathies / Q000209:etiology / Q000235:genetics; D008928:Mitochondria / Q000378:metabolism*; D020125:Mutation, Missense; D021381:Protein Transport
D001226:Aspartate-tRNA Ligase