A human pathology-related mutation prevents import of an aminoacyl-tRNA synthetase into mitochondria |
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Authors: | Messmer Marie Florentz Catherine Schwenzer Hagen Scheper Gert C van der Knaap Marjo S Maréchal-Drouard Laurence Sissler Marie |
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Institution: | Université de Strasbourg, CNRS, IBMC, Strasbourg, France. |
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Abstract: | Mutations in the nuclear gene coding for the mitochondrial aspartyl-tRNA synthetase, a key enzyme for mitochondrial translation, are correlated with leukoencephalopathy. A Ser?? to Gly?? 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. |
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