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

Abstract

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.

• Authors: Marie Messmer, Catherine Florentz, Hagen Schwenzer, Gert C Scheper, Marjo S van der Knaap, Laurence Maréchal-Drouard, Marie Sissler
• Journal: The Biochemical journal (Biochem J) Vol. 433 Issue 3 Pg. 441-6 (Feb 01 2011) ISSN: 1470-8728 [Electronic] England
• PMID: 21121901 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Aspartate-tRNA Ligase

Topics

• Aspartate-tRNA Ligase (genetics, metabolism)
• Cell Line
• Humans
• Leukoencephalopathies (etiology, genetics)
• Mitochondria (metabolism)
• Mutation, Missense
• Protein Transport