Rescue of a deficiency in ATP synthesis by transfer of MTATP6, a mitochondrial DNA-encoded gene, to the nucleus

Giovanni Manfredi; Jiamei Fu; Joseline Ojaimi; James E. Sadlock; Jennifer Q Kwong; John Guy; E. A. Schon

@article{Manfredi2002RescueOA, title={Rescue of a deficiency in ATP synthesis by transfer of MTATP6, a mitochondrial DNA-encoded gene, to the nucleus}, author={Giovanni Manfredi and Jiamei Fu and Joseline Ojaimi and James E. Sadlock and Jennifer Q Kwong and John Guy and E. A. Schon}, journal={Nature Genetics}, year={2002}, volume={30}, pages={394-399} }

A T→G transversion at nt 8993 in mitochondrial DNA of MTATP6 (encoding ATPase 6 of complex V of the respiratory chain) causes impaired mitochondrial ATP synthesis in two related mitochondrial disorders: neuropathy, ataxia and retinitis pigmentosa and maternally inherited Leigh syndrome. To overcome the biochemical defect, we expressed wildtype ATPase 6 protein allotopically from nucleus-transfected constructs encoding an amino-terminal mitochondrial targeting signal appended to a recoded ATPase… CONTINUE READING

Nakada, K. et al. Inter-mitochondrial complementation
Nature Med. 7, 934–939
2001

Rescue of a deficiency in ATP synthesis by transfer of MTATP6, a mitochondrial DNA-encoded gene, to the nucleus

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Topics

Cited By

mRNA localization to the mitochondrial surface allows the efficient translocation inside the organelle of a nuclear recoded ATP6 protein.

Dvelopment of pharmacological strategies for mitochondrial disorders

Modifying the Mitochondrial Genome.

Mitochondrial ATP synthase: architecture, function and pathology

What limits the allotopic expression of nucleus-encoded mitochondrial genes? The case of the chimeric Cox3 and Atp6 genes.

Import of Proteins and Nucleic Acids into Mitochondria

Mitochondrial versus nuclear gene expression and membrane protein assembly: the case of subunit 2 of yeast cytochrome c oxidase

Current strategies towards therapeutic manipulation of mtDNA heteroplasmy.

Leber Hereditary Optic Neuropathy: A Mitochondrial Disease Unique in Many Ways.

Leber Hereditary Optic Neuropathy: Exemplar of an mtDNA Disease.

References

Assay of mitochondrial ATP synthesis in animal cells.

Assaying protein import into mitochondria.

Energy-driven subunit rotation at the interface between subunit a and the c oligomer in the F(O) sector of Escherichia coli ATP synthase.

Inter-mitochondrial complementation: Mitochondria-specific system preventing mice from expression of disease phenotypes by mutant mtDNA

Isolation and subfractionation of mitochondria from animal cells and tissue culture lines.

Mitochondria transfection by oligonucleotides containing a signal peptide and vectorized by cationic liposomes.

Pathogenesis of primary defects in mitochondrial ATP synthesis.

The rotary machine in the cell, ATP synthase.

mitochondria-specific system preventing mice from expression of disease phenotypes by mutant mtDNA

Mutations in mtDNA: are we scraping the bottom of the barrel?

Rescue of a deficiency in ATP synthesis by transfer of MTATP6, a mitochondrial DNA-encoded gene, to the nucleus

5 Figures & Tables

Topics

Cited By

mRNA localization to the mitochondrial surface allows the efficient translocation inside the organelle of a nuclear recoded ATP6 protein.

Dvelopment of pharmacological strategies for mitochondrial disorders

Modifying the Mitochondrial Genome.

Mitochondrial ATP synthase: architecture, function and pathology

What limits the allotopic expression of nucleus-encoded mitochondrial genes? The case of the chimeric Cox3 and Atp6 genes.

Import of Proteins and Nucleic Acids into Mitochondria

Mitochondrial versus nuclear gene expression and membrane protein assembly: the case of subunit 2 of yeast cytochrome c oxidase

Current strategies towards therapeutic manipulation of mtDNA heteroplasmy.

Leber Hereditary Optic Neuropathy: A Mitochondrial Disease Unique in Many Ways.

Leber Hereditary Optic Neuropathy: Exemplar of an mtDNA Disease.

References

Assay of mitochondrial ATP synthesis in animal cells.

Assaying protein import into mitochondria.

Energy-driven subunit rotation at the interface between subunit a and the c oligomer in the F(O) sector of Escherichia coli ATP synthase.

Inter-mitochondrial complementation: Mitochondria-specific system preventing mice from expression of disease phenotypes by mutant mtDNA

Isolation and subfractionation of mitochondria from animal cells and tissue culture lines.

Mitochondria transfection by oligonucleotides containing a signal peptide and vectorized by cationic liposomes.

Pathogenesis of primary defects in mitochondrial ATP synthesis.

The rotary machine in the cell, ATP synthase.

mitochondria-specific system preventing mice from expression of disease phenotypes by mutant mtDNA

Mutations in mtDNA: are we scraping the bottom of the barrel?

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