Open AccessMixing and matching mitochondrial aminoacyl synthetases and their tRNA s: a new way to treat respiratory chain disorders?
Author(s) -
Tyynismaa Henna,
Schon Eric A.
Publication year - 2014
Publication title -
embo molecular medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.923
H-Index - 107
eISSN - 1757-4684
pISSN - 1757-4676
DOI - 10.1002/emmm.201303586
Subject(s) - aminoacyl trna synthetase , transfer rna , mitochondrial dna , mitochondrial disease , biology , mutation , mitochondrion , mitochondrial respiratory chain , genetics , phenotype , respiratory chain , computational biology , gene , rna
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.