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

作者：Messmer Marie; Florentz Catherine; Schwenzer Hagen; Scheper Gert C; van der Knaap Marjo S; Marechal Drouard Laurence^*; Sissler Marie

来源：Biochemical Journal, 2011, 433: 441-446.

DOI：10.1042/BJ20101902

• aminoacyl-tRNA synthetase
• organelle
• pathology-related mutation
• protein import
• translation machinery
• translocation

Mutations in the nuclear gene coding for the mitochondrial aspartyl-tRNA synthetase, a key enzyme for mitochondria] translation, are correlated with leukoencephalopathy. A Ser(45) to Gly(45) 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.

• 出版日期2011-2-1