Mixing and matching mitochondrial aminoacyl synthetases and their tRNAs: a new way to treat respiratory chain disorders?
Mutations in mitochondrial DNA are an important cause of human disease and from a therapeutic standpoint, these disorders are currently untreatable. New studies now show that a non‐cognate mitochondrial aminoacyl tRNA synthetase can overcome the respiratory defect caused by an mt‐tRNA mutation and that the isolated carboxy‐terminal domain of human mt‐leucyl tRNA synthetase can ameliorate the pathologic phenotype.
Research Programs Unit Molecular Neurology, Biomedicum Helsinki, Helsinki, Finland.
Henna
H
Tyynismaa
Eric A
EA
Schon
D000604:Amino Acyl-tRNA Synthetases / Q000378:metabolism*; D004272:DNA, Mitochondrial / Q000235:genetics; D006801:Humans; D008928:Mitochondria / Q000201:enzymology*; D028361:Mitochondrial Diseases / Q000628:therapy*; D009154:Mutation / Q000235:genetics; D012343:RNA, Transfer / Q000378:metabolism*
D004272:DNA, Mitochondrial; D012343:RNA, Transfer; D000604:Amino Acyl-tRNA Synthetases