Ahting 2009 Biochim Biophys Acta
|Ahting U, Floss T, Uez N, Schneider-Lohmar I, Becker L, Kling E, Iuso A, Bender A, de Angelis MH, Gailus-Durner V, Fuchs H, Meitinger T, Wurst W, Prokisch H, Klopstock T (2009) Neurological phenotype and reduced lifespan in heterozygous Tim23 knockout mice, the first mouse model of defective mitochondrial import. Biochim Biophys Acta 1787:371-76.|
Abstract: The Tim23 protein is the key component of the mitochondrial import machinery. It locates to the inner mitochondrial membrane and its own import is dependent on the DDP1/TIM13 complex. Mutations in human DDP1 cause the Mohr-Tranebjaerg syndrome (MTS/DFN-1; OMIM #304700), which is one of the two known human diseases of the mitochondrial protein import machinery. We created a Tim23 knockout mouse from a gene trap embryonic stem cell clone. Homozygous Tim23 mice were not viable. Heterozygous F1 mutants showed a 50% reduction of Tim23 protein in Western blot, a neurological phenotype and a markedly reduced life span. Haploinsufficiency of the Tim23 mutation underlines the critical role of the mitochondrial import machinery for maintaining mitochondrial function.
• Keywords: Tim23 knockout mouse, DDP1, Mitochondrial import machinery
Labels: MiParea: Respiration, Genetic knockout;overexpression Pathology: Other
Organism: Mouse Tissue;cell: Stem cells Preparation: Permeabilized cells Enzyme: Complex II;succinate dehydrogenase, Complex III, Complex IV;cytochrome c oxidase, Inner mt-membrane transporter
Coupling state: OXPHOS, ET Pathway: N, S HRR: Oxygraph-2k