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Neurological phenotype and reduced lifespan in heterozygous Tim23 knockout mice, the first mouse model of defective mitochondrial import
- Source :
- Biochimica et biophysica acta. 1787(5)
- Publication Year :
- 2008
-
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.
- Subjects :
- Genotype
Mutant
Biophysics
Biology
medicine.disease_cause
Biochemistry
Mitochondrial Membrane Transport Proteins
Tim23 knockout mouse
Mitochondrial import machinery
Mitochondrial Proteins
Mice
Life Expectancy
Forelimb
Mitochondrial Precursor Protein Import Complex Proteins
medicine
Animals
Humans
DDP1
Inner mitochondrial membrane
RBBP7
Gene
Mice, Knockout
Mutation
Hand Strength
Membrane Proteins
Membrane Transport Proteins
Cell Biology
Orofaciodigital Syndromes
Phenotype
Molecular biology
Mitochondria
Protein Transport
Blastocyst
Rotarod Performance Test
Knockout mouse
Haploinsufficiency
Subjects
Details
- ISSN :
- 00063002
- Volume :
- 1787
- Issue :
- 5
- Database :
- OpenAIRE
- Journal :
- Biochimica et biophysica acta
- Accession number :
- edsair.doi.dedup.....40e6a89bef6f1c021c93794e585c86af