Mitochondrial fragmentation in neurodegeneration (original) (raw)
Chan, D. C. Mitochondria: dynamic organelles in disease, aging, and development. Cell125, 1241–1252 (2006). ArticleCASPubMed Google Scholar
Hoppins, S., Lackner, L. & Nunnari, J. The machines that divide and fuse mitochondria. Annu. Rev. Biochem.76, 751–780 (2007). ArticleCASPubMed Google Scholar
Baloh, R. H., Schmidt, R. E., Pestronk, A. & Milbrandt, J. Altered axonal mitochondrial transport in the pathogenesis of Charcot-Marie-Tooth disease from mitofusin 2 mutations. J. Neurosci.27, 422–430 (2007). ArticleCASPubMedPubMed Central Google Scholar
Chen, H., McCaffery, J. M. & Chan, D. C. Mitochondrial fusion protects against neurodegeneration in the cerebellum. Cell130, 548–562 (2007). ArticleCASPubMed Google Scholar
Chen, H. et al. Mitofusins Mfn1 and Mfn2 coordinately regulate mitochondrial fusion and are essential for embryonic development. J. Cell Biol.160, 189–200 (2003). ArticleCASPubMedPubMed Central Google Scholar
Barsoum, M. J. et al. Nitric oxide-induced mitochondrial fission is regulated by dynamin-related GTPases in neurons. EMBO J.25, 3900–3911 (2006). ArticleCASPubMedPubMed Central Google Scholar
Twig, G. et al. Fission and selective fusion govern mitochondrial segregation and elimination by autophagy. EMBO J.27, 433–446 (2008). ArticleCASPubMedPubMed Central Google Scholar
Bereiter-Hahn, J. & Voth, M. Dynamics of mitochondria in living cells: shape changes, dislocations, fusion, and fission of mitochondria. Microsc. Res. Tech.27, 198–219 (1994). ArticleCASPubMed Google Scholar
Nunnari, J. et al. Mitochondrial transmission during mating in Saccharomyces cerevisiae is determined by mitochondrial fusion and fission and the intramitochondrial segregation of mitochondrial DNA. Mol. Biol. Cell8, 1233–1242 (1997). ArticleCASPubMedPubMed Central Google Scholar
Urrutia, R., Henley, J. R., Cook, T. & McNiven, M. A. The dynamins: redundant or distinct functions for an expanding family of related GTPases? Proc. Natl Acad. Sci. USA94, 377–384 (1997). ArticleCASPubMedPubMed Central Google Scholar
Sesaki, H. & Jensen, R. E. Division versus fusion: Dnm1p and Fzo1p antagonistically regulate mitochondrial shape. J. Cell Biol.147, 699–706 (1999). ArticleCASPubMedPubMed Central Google Scholar
Wong, E. D. et al. The intramitochondrial dynamin-related GTPase, Mgm1p, is a component of a protein complex that mediates mitochondrial fusion. J. Cell Biol.160, 303–311 (2003). ArticleCASPubMedPubMed Central Google Scholar
Griffin, E. E. & Chan, D. C. Domain interactions within Fzo1 oligomers are essential for mitochondrial fusion. J. Biol. Chem.281, 16599–16606 (2006). ArticleCASPubMed Google Scholar
Meeusen, S., McCaffery, J. M. & Nunnari, J. Mitochondrial fusion intermediates revealed in vitro. Science305, 1747–1752 (2004). ArticleCASPubMed Google Scholar
Ishihara, N., Eura, Y. & Mihara, K. Mitofusin 1 and 2 play distinct roles in mitochondrial fusion reactions via GTPase activity. J. Cell Sci.117, 6535–6546 (2004). ArticleCASPubMed Google Scholar
Koshiba, T. et al. Structural basis of mitochondrial tethering by mitofusin complexes. Science305, 858–862 (2004). ArticleCASPubMed Google Scholar
Low, H. H. & Lowe, J. A bacterial dynamin-like protein. Nature444, 766–769 (2006). This study provided the first structure of a full-length dynamin-like protein. ArticleCASPubMed Google Scholar
Chen, H., Chomyn, A. & Chan, D. C. Disruption of fusion results in mitochondrial heterogeneity and dysfunction. J. Biol. Chem.280, 26185–26192 (2005). ArticleCASPubMed Google Scholar
Cipolat, S., Martins de Brito, O., Dal Zilio, B. & Scorrano, L. OPA1 requires mitofusin 1 to promote mitochondrial fusion. Proc. Natl Acad. Sci. USA101, 15927–15932 (2004). ArticleCASPubMedPubMed Central Google Scholar
Davies, V. J. et al. Opa1 deficiency in a mouse model of autosomal dominant optic atrophy impairs mitochondrial morphology, optic nerve structure and visual function. Hum. Mol. Genet.16, 1307–1318 (2007). ArticleCASPubMed Google Scholar
Olichon, A. et al. The human dynamin-related protein OPA1 is anchored to the mitochondrial inner membrane facing the inter-membrane space. FEBS Lett.523, 171–176 (2002). ArticleCASPubMed Google Scholar
Yarosh, W. et al. The molecular mechanisms of OPA1-mediated optic atrophy in Drosophila model and prospects for antioxidant treatment. PLoS Genet.4, e6 (2008). ArticlePubMedPubMed CentralCAS Google Scholar
Meeusen, S. et al. Mitochondrial inner-membrane fusion and crista maintenance requires the dynamin-related GTPase Mgm1. Cell127, 383–395 (2006). ArticleCASPubMed Google Scholar
Frezza, C. et al. OPA1 controls apoptotic cristae remodeling independently from mitochondrial fusion. Cell126, 177–189 (2006). ArticleCASPubMed Google Scholar
Griparic, L., Kanazawa, T. & van der Bliek, A. M. Regulation of the mitochondrial dynamin-like protein Opa1 by proteolytic cleavage. J. Cell Biol.178, 757–764 (2007). ArticleCASPubMedPubMed Central Google Scholar
Song, Z., Chen, H., Fiket, M., Alexander, C. & Chan, D. C. OPA1 processing controls mitochondrial fusion and is regulated by mRNA splicing, membrane potential, and Yme1L. J. Cell Biol.178, 749–755 (2007). ArticleCASPubMedPubMed Central Google Scholar
Duvezin-Caubet, S. et al. OPA1 processing reconstituted in yeast depends on the subunit composition of the _m_-AAA protease in mitochondria. Mol. Biol. Cell18, 3582–3590 (2007). ArticleCASPubMedPubMed Central Google Scholar
Casari, G. et al. Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. Cell93, 973–983 (1998). ArticleCASPubMed Google Scholar
Labrousse, A. M., Zappaterra, M. D., Rube, D. A. & van der Bliek, A. M. C . elegans dynamin-related protein DRP-1 controls severing of the mitochondrial outer membrane. Mol. Cell4, 815–826 (1999). ArticleCASPubMed Google Scholar
Legesse-Miller, A., Massol, R. H. & Kirchhausen, T. Constriction and Dnm1p recruitment are distinct processes in mitochondrial fission. Mol. Biol. Cell14, 1953–1963 (2003). ArticleCASPubMedPubMed Central Google Scholar
Naylor, K. et al. Mdv1 interacts with assembled Dnm1 to promote mitochondrial division. J. Biol. Chem.281, 2177–2183 (2006). ArticleCASPubMed Google Scholar
Smirnova, E., Griparic, L., Shurland, D. L. & van der Bliek, A. M. Dynamin-related protein Drp1 is required for mitochondrial division in mammalian cells. Mol. Biol. Cell12, 2245–2256 (2001). ArticleCASPubMedPubMed Central Google Scholar
Cerveny, K. L. & Jensen, R. E. The WD-repeats of Net2p interact with Dnm1p and Fis1p to regulate division of mitochondria. Mol. Biol. Cell14, 4126–4139 (2003). ArticleCASPubMedPubMed Central Google Scholar
Karren, M. A., Coonrod, E. M., Anderson, T. K. & Shaw, J. M. The role of Fis1p-Mdv1p interactions in mitochondrial fission complex assembly. J. Cell Biol.171, 291–301 (2005). ArticleCASPubMedPubMed Central Google Scholar
Zhang, Y. & Chan, D. C. Structural basis for recruitment of mitochondrial fission complexes by Fis1. Proc. Natl Acad. Sci. USA104, 18526–18530 (2007). ArticleCASPubMedPubMed Central Google Scholar
Yoon, Y., Krueger, E. W., Oswald, B. J. & McNiven, M. A. The mitochondrial protein hFis1 regulates mitochondrial fission in mammalian cells through an interaction with the dynamin-like protein DLP1. Mol. Cell. Biol.23, 5409–5420 (2003). ArticleCASPubMedPubMed Central Google Scholar
Lee, Y. J., Jeong, S. Y., Karbowski, M., Smith, C. L. & Youle, R. J. Roles of the mammalian mitochondrial fission and fusion mediators Fis1, Drp1, and Opa1 in apoptosis. Mol. Biol. Cell15, 5001–5011 (2004). ArticleCASPubMedPubMed Central Google Scholar
Wasiak, S., Zunino, R. & McBride, H. M. Bax/Bak promote sumoylation of DRP1 and its stable association with mitochondria during apoptotic cell death. J. Cell Biol.177, 439–450 (2007). ArticleCASPubMedPubMed Central Google Scholar
Niemann, A., Ruegg, M., La Padula, V., Schenone, A. & Suter, U. Ganglioside-induced differentiation associated protein 1 is a regulator of the mitochondrial network: new implications for Charcot-Marie-Tooth disease. J. Cell Biol.170, 1067–1078 (2005). ArticleCASPubMedPubMed Central Google Scholar
Detmer, S. A. & Chan, D. C. Functions and dysfunctions of mitochondrial dynamics. Nature Rev. Mol. Cell Biol.8, 870–879 (2007). ArticleCAS Google Scholar
Chang, C. R. & Blackstone, C. Cyclic AMP-dependent protein kinase phosphorylation of Drp1 regulates its GTPase activity and mitochondrial morphology. J. Biol. Chem.282, 21583–21587 (2007). ArticleCASPubMed Google Scholar
Cribbs, J. T. & Strack, S. Reversible phosphorylation of Drp1 by cyclic AMP-dependent protein kinase and calcineurin regulates mitochondrial fission and cell death. EMBO Rep.8, 939–944 (2007). ArticleCASPubMedPubMed Central Google Scholar
Taguchi, N., Ishihara, N., Jofuku, A., Oka, T. & Mihara, K. Mitotic phosphorylation of dynamin-related GTPase Drp1 participates in mitochondrial fission. J. Biol. Chem.282, 11521–11529 (2007). ArticleCASPubMed Google Scholar
Meuer, K. et al. Cyclin-dependent kinase 5 is an upstream regulator of mitochondrial fission during neuronal apoptosis. Cell Death Differ.14, 651–661 (2007). ArticleCASPubMed Google Scholar
Harder, Z., Zunino, R. & McBride, H. Sumo1 conjugates mitochondrial substrates and participates in mitochondrial fission. Curr. Biol.14, 340–345 (2004). ArticleCASPubMed Google Scholar
Karbowski, M., Neutzner, A. & Youle, R. J. The mitochondrial E3 ubiquitin ligase MARCH5 is required for Drp1 dependent mitochondrial division. J. Cell Biol.178, 71–84 (2007). ArticleCASPubMedPubMed Central Google Scholar
Nakamura, N., Kimura, Y., Tokuda, M., Honda, S. & Hirose, S. MARCH-V is a novel mitofusin 2- and Drp1-binding protein able to change mitochondrial morphology. EMBO Rep.7, 1019–1022 (2006). ArticleCASPubMedPubMed Central Google Scholar
Yonashiro, R. et al. A novel mitochondrial ubiquitin ligase plays a critical role in mitochondrial dynamics. EMBO J.25, 3618–3626 (2006). ArticleCASPubMedPubMed Central Google Scholar
Frank, S. et al. The role of dynamin-related protein 1, a mediator of mitochondrial fission, in apoptosis. Dev. Cell1, 515–525 (2001). ArticleCASPubMed Google Scholar
Karbowski, M. et al. Spatial and temporal association of Bax with mitochondrial fission sites, Drp1, and Mfn2 during apoptosis. J. Cell Biol.159, 931–938 (2002). References 52 and 53 were two of the first studies to describe the relationship between mitochondrial fission and cell death. ArticleCASPubMedPubMed Central Google Scholar
Jagasia, R., Grote, P., Westermann, B. & Conradt, B. DRP-1-mediated mitochondrial fragmentation during EGL-1-induced cell death in C. elegans. Nature433, 754–760 (2005). ArticleCASPubMed Google Scholar
Abdelwahid, E. et al. Mitochondrial disruption in Drosophila apoptosis. Dev. Cell12, 793–806 (2007). ArticleCASPubMed Google Scholar
Goyal, G., Fell, B., Sarin, A., Youle, R. J. & Sriram, V. Role of mitochondrial remodeling in programmed cell death in Drosophila melanogaster. Dev. Cell12, 807–816 (2007). ArticleCASPubMedPubMed Central Google Scholar
Scheckhuber, C. Q. et al. Reducing mitochondrial fission results in increased life span and fitness of two fungal ageing models. Nature Cell Biol.9, 99–105 (2007). ArticleCASPubMed Google Scholar
Leinninger, G. M. et al. Mitochondria in DRG neurons undergo hyperglycaemic mediated injury through Bim, Bax and the fission protein Drp1. Neurobiol. Dis.23, 11–22 (2006). ArticleCASPubMed Google Scholar
Yuan, H. et al. Mitochondrial fission is an upstream and required event for bax foci formation in response to nitric oxide in cortical neurons. Cell Death Differ.14, 462–471 (2007). ArticleCASPubMed Google Scholar
Brooks, C. et al. Bak regulates mitochondrial morphology and pathology during apoptosis by interacting with mitofusins. Proc. Natl Acad. Sci. USA104, 11649–11654 (2007). ArticleCASPubMedPubMed Central Google Scholar
Karbowski, M., Norris, K. L., Cleland, M. M., Jeong, S. Y. & Youle, R. J. Role of Bax and Bak in mitochondrial morphogenesis. Nature443, 658–662 (2006). ArticleCASPubMed Google Scholar
Estaquier, J. & Arnoult, D. Inhibiting Drp1-mediated mitochondrial fission selectively prevents the release of cytochrome c during apoptosis. Cell Death Differ.14, 1086–1094 (2007). ArticleCASPubMed Google Scholar
James, D. I., Parone, P. A., Mattenberger, Y. & Martinou, J. C. hFis1, a novel component of the mammalian mitochondrial fission machinery. J. Biol. Chem.278, 36373–36379 (2003). ArticleCASPubMed Google Scholar
Parone, P. A. et al. Inhibiting the mitochondrial fission machinery does not prevent Bax/Bak-dependent apoptosis. Mol. Cell. Biol.26, 7397–7408 (2006). ArticleCASPubMedPubMed Central Google Scholar
Alirol, E. et al. The mitochondrial fission protein hFis1 requires the endoplasmic reticulum gateway to induce apoptosis. Mol. Biol. Cell17, 4593–4605 (2006). ArticleCASPubMedPubMed Central Google Scholar
Bras, M. et al. Drp1 mediates caspase-independent type III cell death in normal and leukemic cells. Mol. Cell. Biol.27, 7073–7088 (2007). ArticleCASPubMedPubMed Central Google Scholar
Li, Z., Okamoto, K., Hayashi, Y. & Sheng, M. The importance of dendritic mitochondria in the morphogenesis and plasticity of spines and synapses. Cell119, 873–887 (2004). This paper underscored the importance of mitochondrial fission and fusion in synaptic development. ArticleCASPubMed Google Scholar
Benard, G. et al. Mitochondrial bioenergetics and structural network organization. J. Cell Sci.120, 838–848 (2007). ArticleCASPubMed Google Scholar
Santel, A. Get the balance right: mitofusins roles in health and disease. Biochim. Biophys. Acta1763, 490–499 (2006). ArticleCASPubMed Google Scholar
Kijima, K. et al. Mitochondrial GTPase mitofusin 2 mutation in Charcot-Marie-Tooth neuropathy type 2A. Hum. Genet.116, 23–27 (2005). ArticleCASPubMed Google Scholar
Zuchner, S. et al. Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. Nature Genet.36, 449–451 (2004). References 71 and 72 were the first to show that mutations inMFN2cause CMT2A. ArticlePubMedCAS Google Scholar
Zuchner, S. et al. Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2. Ann. Neurol.59, 276–281 (2006). ArticleCASPubMed Google Scholar
Carelli, V., Ross-Cisneros, F. N. & Sadun, A. A. Mitochondrial dysfunction as a cause of optic neuropathies. Prog. Retin. Eye Res.23, 53–89 (2004). ArticleCASPubMed Google Scholar
Amati-Bonneau, P. et al. OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes. Brain131, 338–351 (2008). ArticlePubMed Google Scholar
Hudson, G. et al. Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance. Brain131, 329–337 (2008). References 75 and 76 describe new optic atrophy 'plus' phenotypes caused by mutations inOPA1. ArticlePubMed Google Scholar
Detmer, S. A. & Chan, D. C. Complementation between mouse Mfn1 and Mfn2 protects mitochondrial fusion defects caused by CMT2A disease mutations. J. Cell Biol.176, 405–414 (2007). ArticleCASPubMedPubMed Central Google Scholar
Chan, D. C. Mitochondrial fusion and fission in mammals. Annu. Rev. Cell Dev. Biol.22, 79–99 (2006). ArticleCASPubMed Google Scholar
Griffin, E. E., Detmer, S. A. & Chan, D. C. Molecular mechanism of mitochondrial membrane fusion. Biochim. Biophys. Acta1763, 482–489 (2006). ArticleCASPubMed Google Scholar
Waterham, H. R. et al. A lethal defect of mitochondrial and peroxisomal fission. N. Engl. J. Med.356, 1736–1741 (2007). This was the first report of aDRP1mutation in a human patient. ArticleCASPubMed Google Scholar
Baxter, R. V. et al. Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21. Nature Genet.30, 21–22 (2002). ArticleCASPubMed Google Scholar
Cuesta, A. et al. The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease. Nature Genet.30, 22–25 (2002). ArticleCASPubMed Google Scholar
Kabzinska, D. et al. Early onset Charcot-Marie-Tooth disease caused by a homozygous Leu239Phe mutation in the GDAP1 gene. Acta Myol.25, 34–37 (2006). CASPubMed Google Scholar
Lin, M. T. & Beal, M. F. Mitochondrial dysfunction and oxidative stress in neurodegenerative diseases. Nature443, 787–795 (2006). ArticleCASPubMed Google Scholar
Jahani-Asl, A. et al. Mitofusin 2 protects cerebellar granule neurons against injury-induced cell death. J. Biol. Chem.282, 23788–23798 (2007). ArticleCASPubMed Google Scholar
Smith, P. D., O'Hare, M. J. & Park, D. S. CDKs: taking on a role as mediators of dopaminergic loss in Parkinson's disease. Trends Mol. Med.10, 445–451 (2004). ArticleCASPubMed Google Scholar
Park, D. S., Levine, B., Ferrari, G. & Greene, L. A. Cyclin dependent kinase inhibitors and dominant negative cyclin dependent kinase 4 and 6 promote survival of NGF-deprived sympathetic neurons. J. Neurosci.17, 8975–8983 (1997). ArticleCASPubMedPubMed Central Google Scholar
Park, D. S. et al. Cyclin-dependent kinases participate in death of neurons evoked by DNA-damaging agents. J. Cell Biol.143, 457–467 (1998). ArticleCASPubMedPubMed Central Google Scholar
Nguyen, M. D. et al. Cell cycle regulators in the neuronal death pathway of amyotrophic lateral sclerosis caused by mutant superoxide dismutase 1. J. Neurosci.23, 2131–2140 (2003). ArticleCASPubMedPubMed Central Google Scholar
Busser, J., Geldmacher, D. S. & Herrup, K. Ectopic cell cycle proteins predict the sites of neuronal cell death in Alzheimer's disease brain. J. Neurosci.18, 2801–2807 (1998). ArticleCASPubMedPubMed Central Google Scholar
Smith, P. D. et al. Calpain-regulated p35/cdk5 plays a central role in dopaminergic neuron death through modulation of the transcription factor myocyte enhancer factor 2. J. Neurosci.26, 440–447 (2006). ArticleCASPubMedPubMed Central Google Scholar
Johansson, A. et al. Genetic association of CDC2 with cerebrospinal fluid tau in Alzheimer's disease. Dement. Geriatr. Cogn. Disord.20, 367–374 (2005). ArticleCASPubMed Google Scholar
Johnson, D. T., Harris, R. A., Blair, P. V. & Balaban, R. S. Functional consequences of mitochondrial proteome heterogeneity. Am. J. Physiol. Cell Physiol.292, C698–C707 (2007). ArticleCASPubMed Google Scholar
Chang, D. T. & Reynolds, I. J. Differences in mitochondrial movement and morphology in young and mature primary cortical neurons in culture. Neuroscience141, 727–736 (2006). ArticleCASPubMed Google Scholar
Reddy, P. H. & Beal, M. F. Are mitochondria critical in the pathogenesis of Alzheimer's disease? Brain Res. Brain Res. Rev.49, 618–632 (2005). ArticleCASPubMed Google Scholar
Rikhy, R., Kamat, S., Ramagiri, S., Sriram, V. & Krishnan, K. S. Mutations in dynamin-related protein result in gross changes in mitochondrial morphology and affect synaptic vesicle recycling at the Drosophila neuromuscular junction. Genes Brain Behav.6, 42–53 (2007). ArticleCASPubMed Google Scholar
Li, H. et al. Bcl-xL induces Drp1-dependent synapse formation in cultured hippocampal neurons. Proc. Natl Acad. Sci. USA105, 2169–2174 (2008). ArticleCASPubMedPubMed Central Google Scholar
Verstreken, P. et al. Synaptic mitochondria are critical for mobilization of reserve pool vesicles at Drosophila neuromuscular junctions. Neuron47, 365–378 (2005). ArticleCASPubMed Google Scholar
Anderson, S. et al. Sequence and organization of the human mitochondrial genome. Nature290, 457–465 (1981). ArticleCASPubMed Google Scholar
Wallace, D. C. A mitochondrial paradigm of metabolic and degenerative diseases, aging, and cancer: a dawn for evolutionary medicine. Annu. Rev. Genet.39, 359–407 (2005). ArticleCASPubMedPubMed Central Google Scholar
Wallace, D. C. Why do we still have a maternally inherited mitochondrial DNA? Insights from evolutionary medicine. Annu. Rev. Biochem.76, 781–821 (2007). ArticleCASPubMed Google Scholar
Cao, Z., Wanagat, J., McKiernan, S. H. & Aiken, J. M. Mitochondrial DNA deletion mutations are concomitant with ragged red regions of individual, aged muscle fibers: analysis by laser-capture microdissection. Nucleic Acids Res.29, 4502–4508 (2001). ArticleCASPubMedPubMed Central Google Scholar
Gokey, N. G. et al. Molecular analyses of mtDNA deletion mutations in microdissected skeletal muscle fibers from aged rhesus monkeys. Aging Cell3, 319–326 (2004). ArticleCASPubMed Google Scholar
Kujoth, G. C. et al. Mitochondrial DNA mutations, oxidative stress, and apoptosis in mammalian aging. Science309, 481–484 (2005). ArticleCASPubMed Google Scholar
Trifunovic, A. et al. Premature ageing in mice expressing defective mitochondrial DNA polymerase. Nature429, 417–423 (2004). ArticleCASPubMed Google Scholar
Kowald, A., Jendrach, M., Pohl, S., Bereiter-Hahn, J. & Hammerstein, P. On the relevance of mitochondrial fusions for the accumulation of mitochondrial deletion mutants: a modelling study. Aging Cell4, 273–283 (2005). ArticleCASPubMed Google Scholar
Diaz, F. et al. Human mitochondrial DNA with large deletions repopulates organelles faster than full-length genomes under relaxed copy number control. Nucleic Acids Res.30, 4626–4633 (2002). ArticleCASPubMedPubMed Central Google Scholar
Moraes, C. T., Kenyon, L. & Hao, H. Mechanisms of human mitochondrial DNA maintenance: the determining role of primary sequence and length over function. Mol. Biol. Cell10, 3345–3356 (1999). ArticleCASPubMedPubMed Central Google Scholar
Elson, J. L., Samuels, D. C., Turnbull, D. M. & Chinnery, P. F. Random intracellular drift explains the clonal expansion of mitochondrial DNA mutations with age. Am. J. Hum. Genet.68, 802–806 (2001). ArticleCASPubMedPubMed Central Google Scholar
Bogenhagen, D. F., Rousseau, D. & Burke, S. The layered structure of human mitochondrial DNA nucleoids. J. Biol. Chem.283, 3665–3675 (2008). ArticleCASPubMed Google Scholar
Jacobs, H. T., Lehtinen, S. K. & Spelbrink, J. N. No sex please, we're mitochondria: a hypothesis on the somatic unit of inheritance of mammalian mtDNA. Bioessays22, 564–572 (2000). ArticleCASPubMed Google Scholar
Johnson, D. T. et al. Tissue heterogeneity of the mammalian mitochondrial proteome. Am. J. Physiol. Cell Physiol.292, C689–C697 (2007). ArticleCASPubMed Google Scholar
Kelly, D. P. & Scarpulla, R. C. Transcriptional regulatory circuits controlling mitochondrial biogenesis and function. Genes Dev.18, 357–368 (2004). ArticleCASPubMed Google Scholar
St-Pierre, J. et al. Suppression of reactive oxygen species and neurodegeneration by the PGC-1 transcriptional co-activators. Cell127, 397–408 (2006). ArticleCASPubMed Google Scholar
Cui, L. et al. Transcriptional repression of PGC-1α by mutant huntingtin leads to mitochondrial dysfunction and neurodegeneration. Cell127, 59–69 (2006). References 117 and 118 describe a potential role for PGC1α and mitochondrial biogenesis in neurodegenerative disease. ArticleCASPubMed Google Scholar
Handschin, C. et al. PGC-1α regulates the neuromuscular junction program and ameliorates Duchenne muscular dystrophy. Genes Dev.21, 770–783 (2007). ArticleCASPubMedPubMed Central Google Scholar
van Praag, H., Christie, B. R., Sejnowski, T. J. & Gage, F. H. Running enhances neurogenesis, learning, and long-term potentiation in mice. Proc. Natl Acad. Sci. USA96, 13427–13431 (1999). ArticleCASPubMedPubMed Central Google Scholar
van Praag, H., Kempermann, G. & Gage, F. H. Running increases cell proliferation and neurogenesis in the adult mouse dentate gyrus. Nature Neurosci.2, 266–270 (1999). ArticleCASPubMed Google Scholar
McCloskey, D. P., Adamo, D. S. & Anderson, B. J. Exercise increases metabolic capacity in the motor cortex and striatum, but not in the hippocampus. Brain Res.891, 168–175 (2001). ArticleCASPubMed Google Scholar
Irrcher, I., Adhihetty, P. J., Joseph, A. M., Ljubicic, V. & Hood, D. A. Regulation of mitochondrial biogenesis in muscle by endurance exercise. Sports Med.33, 783–793 (2003). ArticlePubMed Google Scholar
Pilegaard, H., Saltin, B. & Neufer, P. D. Exercise induces transient transcriptional activation of the PGC-1α gene in human skeletal muscle. J. Physiol.546, 851–858 (2003). ArticleCASPubMedPubMed Central Google Scholar
Short, K. R. et al. Decline in skeletal muscle mitochondrial function with aging in humans. Proc. Natl Acad. Sci. USA102, 5618–5623 (2005). ArticleCASPubMedPubMed Central Google Scholar
Krishnan, K. J., Greaves, L. C., Reeve, A. K. & Turnbull, D. M. Mitochondrial DNA mutations and aging. Ann. NY Acad. Sci.1100, 227–240 (2007). ArticleCASPubMed Google Scholar
Melov, S., Tarnopolsky, M. A., Beckman, K., Felkey, K. & Hubbard, A. Resistance exercise reverses aging in human skeletal muscle. PLoS ONE2, e465 (2007). ArticlePubMedPubMed CentralCAS Google Scholar
Cartoni, R. et al. Mitofusins 1/2 and ERRα expression are increased in human skeletal muscle after physical exercise. J. Physiol.567, 349–358 (2005). ArticleCASPubMedPubMed Central Google Scholar
Bach, D. et al. Mitofusin-2 determines mitochondrial network architecture and mitochondrial metabolism. A novel regulatory mechanism altered in obesity. J. Biol. Chem.278, 17190–17197 (2003). ArticleCASPubMed Google Scholar
Taivassalo, T. et al. Gene shifting: a novel therapy for mitochondrial myopathy. Hum. Mol. Genet.8, 1047–1052 (1999). ArticleCASPubMed Google Scholar
Parise, G., Brose, A. N. & Tarnopolsky, M. A. Resistance exercise training decreases oxidative damage to DNA and increases cytochrome oxidase activity in older adults. Exp. Gerontol.40, 173–180 (2005). ArticleCASPubMed Google Scholar
DiMauro, S., Hirano, M. & Schon, E. A. Approaches to the treatment of mitochondrial diseases. Muscle Nerve34, 265–283 (2006). ArticleCASPubMed Google Scholar
Taivassalo, T. & Haller, R. G. Exercise and training in mitochondrial myopathies. Med. Sci. Sports Exerc.37, 2094–2101 (2005). ArticleCASPubMed Google Scholar
Kukidome, D. et al. Activation of AMP-activated protein kinase reduces hyperglycaemia-induced mitochondrial reactive oxygen species production and promotes mitochondrial biogenesis in human umbilical vein endothelial cells. Diabetes55, 120–127 (2006). ArticleCASPubMed Google Scholar
St-Pierre, J. et al. Bioenergetic analysis of peroxisome proliferator-activated receptor γ co-activators 1α and 1β (PGC-1α and PGC-1β) in muscle cells. J. Biol. Chem.278, 26597–26603 (2003). ArticleCASPubMed Google Scholar
Lehman, J. J. et al. Peroxisome proliferator-activated receptor γ co-activator-1 promotes cardiac mitochondrial biogenesis. J. Clin. Invest.106, 847–856 (2000). ArticleCASPubMedPubMed Central Google Scholar
Nunomura, A. et al. Oxidative damage is the earliest event in Alzheimer disease. J. Neuropathol. Exp. Neurol.60, 759–767 (2001). ArticleCASPubMed Google Scholar
Crouch, P. J. et al. Copper-dependent inhibition of human cytochrome c oxidase by a dimeric conformer of amyloid-β1–42 . J. Neurosci.25, 672–679 (2005). ArticleCASPubMedPubMed Central Google Scholar
Manczak, M. et al. Mitochondria are a direct site of Aβ accumulation in Alzheimer's disease neurons: implications for free radical generation and oxidative damage in disease progression. Hum. Mol. Genet.15, 1437–1449 (2006). ArticleCASPubMed Google Scholar
Betarbet, R. et al. Chronic systemic pesticide exposure reproduces features of Parkinson's disease. Nature Neurosci.3, 1301–1306 (2000). ArticleCASPubMed Google Scholar
Fornai, F. et al. Parkinson-like syndrome induced by continuous MPTP infusion: convergent roles of the ubiquitin-proteasome system and α-synuclein. Proc. Natl Acad. Sci. USA102, 3413–3418 (2005). ArticleCASPubMedPubMed Central Google Scholar
Damiano, M. et al. Neural mitochondrial Ca2+ capacity impairment precedes the onset of motor symptoms in G93A Cu/Zn-superoxide dismutase mutant mice. J. Neurochem.96, 1349–1361 (2006). ArticleCASPubMed Google Scholar
Liu, J. et al. Toxicity of familial ALS-linked SOD1 mutants from selective recruitment to spinal mitochondria. Neuron43, 5–17 (2004). ArticleCASPubMed Google Scholar
Mattiazzi, M. et al. Mutated human SOD1 causes dysfunction of oxidative phosphorylation in mitochondria of transgenic mice. J. Biol. Chem.277, 29626–29633 (2002). ArticleCASPubMed Google Scholar
Pasinelli, P. et al. Amyotrophic lateral sclerosis-associated SOD1 mutant proteins bind and aggregate with Bcl-2 in spinal cord mitochondria. Neuron43, 19–30 (2004). ArticleCASPubMed Google Scholar
Milakovic, T. & Johnson, G. V. Mitochondrial respiration and ATP production are significantly impaired in striatal cells expressing mutant huntingtin. J. Biol. Chem.280, 30773–30782 (2005). ArticleCASPubMed Google Scholar
Benchoua, A. et al. Involvement of mitochondrial complex II defects in neuronal death produced by N-terminus fragment of mutated huntingtin. Mol. Biol. Cell17, 1652–1663 (2006). ArticleCASPubMedPubMed Central Google Scholar
Panov, A. V. et al. Early mitochondrial calcium defects in Huntington's disease are a direct effect of polyglutamines. Nature Neurosci.5, 731–736 (2002). ArticleCASPubMed Google Scholar
Yang, Y. et al. Pink1 regulates mitochondrial dynamics through interaction with the fission/fusion machinery. Proc. Natl Acad. Sci. USA105, 7070–7075 (2008). ArticleCASPubMedPubMed Central Google Scholar