Editing-defective tRNA synthetase causes protein misfolding and neurodegeneration
doi: 10.1038/nature05096
pmid: 16906134
Editing-defective tRNA synthetase causes protein misfolding and neurodegeneration
Misfolded proteins are associated with several pathological conditions including neurodegeneration. Although some of these abnormally folded proteins result from mutations in genes encoding disease-associated proteins (for example, repeat-expansion diseases), more general mechanisms that lead to misfolded proteins in neurons remain largely unknown. Here we demonstrate that low levels of mischarged transfer RNAs (tRNAs) can lead to an intracellular accumulation of misfolded proteins in neurons. These accumulations are accompanied by upregulation of cytoplasmic protein chaperones and by induction of the unfolded protein response. We report that the mouse sticky mutation, which causes cerebellar Purkinje cell loss and ataxia, is a missense mutation in the editing domain of the alanyl-tRNA synthetase gene that compromises the proofreading activity of this enzyme during aminoacylation of tRNAs. These findings demonstrate that disruption of translational fidelity in terminally differentiated neurons leads to the accumulation of misfolded proteins and cell death, and provide a novel mechanism underlying neurodegeneration.
- Scripps Research Institute United States
- Jackson Laboratory United States
- Howard Hughes Medical Institute United States
Models, Molecular, 570, Protein Folding, Molecular Sequence Data, Neurodegenerative-Diseases, 610, RNA, Transfer, Ala, Alanine-tRNA-Ligase, Protein-Structure-Tertiary, Escherichia-coli, Catalysis, Mice, Purkinje Cells, Purkinje-Cells, Serine, Escherichia coli, Animals, Humans, Mice-Mutant-Strains, Molecular-Sequence-Data, Alanine, Mice-Inbred-C57BL, Alanine-tRNA Ligase, Protein-Folding, Acetylation, Neurodegenerative Diseases, Fibroblasts, Mice, Mutant Strains, Protein Structure, Tertiary, Mice, Inbred C57BL, RNA-Transfer-Ala, Phenotype, Models-Molecular, Mutation
Models, Molecular, 570, Protein Folding, Molecular Sequence Data, Neurodegenerative-Diseases, 610, RNA, Transfer, Ala, Alanine-tRNA-Ligase, Protein-Structure-Tertiary, Escherichia-coli, Catalysis, Mice, Purkinje Cells, Purkinje-Cells, Serine, Escherichia coli, Animals, Humans, Mice-Mutant-Strains, Molecular-Sequence-Data, Alanine, Mice-Inbred-C57BL, Alanine-tRNA Ligase, Protein-Folding, Acetylation, Neurodegenerative Diseases, Fibroblasts, Mice, Mutant Strains, Protein Structure, Tertiary, Mice, Inbred C57BL, RNA-Transfer-Ala, Phenotype, Models-Molecular, Mutation
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