DiMauro S, Schon EA: Mitochondrial respiratory-chain diseases. N Engl J Med. 2003, 348: 2656-2668. 10.1056/NEJMra022567.
Article
CAS
PubMed
Google Scholar
Noji H, Yoshida M: The rotary machine of the cell, ATP synthase. J Biol Chem. 2001, 276: 1665-1668. 10.1074/jbc.R000021200.
Article
CAS
PubMed
Google Scholar
Filosto M, Mancuso M: Mitochondrial diseases: A nosological update. Acta Neurol Scand. 2007, 115: 211-221. 10.1111/j.1600-0404.2006.00777.x.
Article
CAS
PubMed
Google Scholar
Cann RL, Stoneking M, Wilson AC: Mitochondrial DNA and human evolution. Nature. 1987, 325: 31-36. 10.1038/325031a0.
Article
CAS
PubMed
Google Scholar
Torroni A, Achilli A, Macaulay V, et al: Harvesting the fruit of the human mtDNA tree. Trends Genet. 2006, 22: 339-345. 10.1016/j.tig.2006.04.001.
Article
CAS
PubMed
Google Scholar
Petrozzi L, Ricci G, Figlioli NJ, et al: Mitochondria and neurodegeneration. Biosci Rep. 2007, 27: 87-104. 10.1007/s10540-007-9038-z.
Article
CAS
PubMed
Google Scholar
Mancuso M, Coppede F, Migliore L, et al: Mitochondrial dysfunction, oxidative stress and neurodegeneration. J Alzheimers Dis. 2006, 10: 59-73.
CAS
PubMed
Google Scholar
Zhang J, Asin-Cayuela J, Fish J, et al: Strikingly higher frequency in centenarians and twins of mtDNA mutation causing remodeling of replication origin in leukocytes. Proc Natl Acad Sci USA. 2003, 100: 1116-1121. 10.1073/pnas.242719399.
Article
PubMed Central
CAS
PubMed
Google Scholar
Niemi AK, Moilanen JS, Tanaka M, et al: A combination of three common inherited mitochondrial DNA polymorphisms promotes longevity in Finnish and Japanese subjects. Eur J Hum Genet. 2005, 13: 166-170. 10.1038/sj.ejhg.5201308.
Article
CAS
PubMed
Google Scholar
Selkoe DJ: Alzheimer's disease: Genes, proteins, and therapy. Physiol Rev. 2001, 81: 741-766.
CAS
PubMed
Google Scholar
Hardy J, Selkoe DJ: The amyloid hypothesis of Alzheimer's disease: Progress and problems on the road to therapeutics. Science. 2002, 297: 353-356. 10.1126/science.1072994.
Article
CAS
PubMed
Google Scholar
Swerdlow RH, Khan SM: A "mitochondrial cascade hypothesis" for sporadic Alzheimer's disease. Med Hypotheses. 2004, 63: 8-20. 10.1016/j.mehy.2003.12.045.
Article
CAS
PubMed
Google Scholar
Beal MF: Mitochondria take center stage in aging and neurode-generation. Ann Neurol. 2005, 58: 495-505. 10.1002/ana.20624.
Article
CAS
PubMed
Google Scholar
Bosetti F, Brizzi F, Barogi S, et al: Cytochrome c oxidase and mitochondrial F1F0 ATPase (ATP synthase) activities in platelets and brain from patients with Alzheimer's disease. Neurobiol Aging. 2002, 23: 371-376. 10.1016/S0197-4580(01)00314-1.
Article
CAS
PubMed
Google Scholar
Mancuso M, Filosto M, Borsetti F, et al: Decreased platelet cytochrome c oxidase activity is accompanied by increased blood lactate concentration during exercise in patients with Alzheimer disease. Exp Neurol. 2003, 182: 421-426. 10.1016/S0014-4886(03)00092-X.
Article
CAS
PubMed
Google Scholar
Khan SM, Cassarino DS, Abramova NN, et al: Alzheimer's disease cybrids replicate beta-amyloid abnormalities through cell death pathways. Ann Neurol. 2000, 48: 148-155. 10.1002/1531-8249(200008)48:2<148::AID-ANA3>3.0.CO;2-7.
Article
CAS
PubMed
Google Scholar
Trimmer PA, Keeney PM, Borland MK, et al: Mitochondrial abnormalities in cybrid cell models of sporadic Alzheimer's disease worsen with passage in culture. Neurobiol Dis. 2004, 15: 29-39. 10.1016/j.nbd.2003.09.011.
Article
CAS
PubMed
Google Scholar
Onyango I, Khan S, Miller B, et al: Mitochondrial genomic contribution to mitochondrial dysfunction in Alzheimer's disease. J Alzheimers Dis. 2006, 9: 183-193.
PubMed
Google Scholar
Elson JL, Herrnstadt C, Preston G, et al: Does the mitochondrial genome play a role in the etiology of Alzheimer's disease?. Hum Genet. 2006, 119: 241-254. 10.1007/s00439-005-0123-8.
Article
CAS
PubMed
Google Scholar
Chagnon P, Gee M, Filion M, et al: Phylogenetic analysis of the mitochondrial genome indicates significant differences between patients with Alzheimer disease and controls in a French-Canadian founder population. Am J Med Genet. 1999, 85: 20-30. 10.1002/(SICI)1096-8628(19990702)85:1<20::AID-AJMG6>3.0.CO;2-K.
Article
CAS
PubMed
Google Scholar
Carrieri G, Bonafe M, De Luca M, et al: Mitochondrial DNA haplogroups and ApoE4 allele are non-independent variables in sporadic Alzheimer's disease. Hum Genet. 2001, 108: 194-198. 10.1007/s004390100463.
Article
CAS
PubMed
Google Scholar
Van der Walt JM, Dementieva YA, Martin ER, et al: Analysis of European mitochondrial haplogroups with Alzheimer disease risk. Neurosci Lett. 2004, 365: 28-32. 10.1016/j.neulet.2004.04.051.
Article
CAS
PubMed
Google Scholar
Chinnery PF, Taylor GA, Howell N, et al: Mitochondrial DNA haplogroups and susceptibility to AD and dementia with Lewy bodies. Neurology. 2000, 55: 302-304. 10.1212/WNL.55.2.302.
Article
CAS
PubMed
Google Scholar
Mancuso M, Nardini M, Micheli D, et al: Lack of association between mtDNA haplogroups and Alzheimer's disease in Tuscany. Neurol Sci,. 2007, 28: 142-147. 10.1007/s10072-007-0807-z.
Article
CAS
Google Scholar
Lean MT, Beal MF: Mitochondrial dysfunction and oxidative stress in neurodegenerative diseases. Nature. 2006, 443: 787-795. 10.1038/nature05292.
Article
Google Scholar
Fukae J, Mizuno Y, Hattori N: Mitochondrial dysfunction in Parkinson's disease. Mitochondrion. 2007, 7: 58-62. 10.1016/j.mito.2006.12.002.
Article
CAS
PubMed
Google Scholar
Gu M, Cooper JM, Taanman JW, et al: Mitochondrial DNA transmission of the mitochondrial defect in Parkinson's disease. Ann Neurol. 1998, 44: 177-186. 10.1002/ana.410440207.
Article
CAS
PubMed
Google Scholar
Casali C, Bonifatti V, Santorelli FM, et al: Mitochondrial myopathy, parkinsonism, and multiple mtDNA deletions in a Sephardic Jewish family. Neurology. 2001, 56: 802-805. 10.1212/WNL.56.6.802.
Article
CAS
PubMed
Google Scholar
Siciliano G, Mancuso M, Ceravolo R, et al: Mitochondrial DNA rearrangements in young onset parkinsonism: Two case reports. J Neurol Neurosurg Psychiatry. 2001, 71: 685-687. 10.1136/jnnp.71.5.685.
Article
PubMed Central
CAS
PubMed
Google Scholar
Davidzon G, Greene P, Mancuso M, et al: Early-onset familial parkinsonism due to POLG mutations. Ann Neurol. 2006, 59: 859-862. 10.1002/ana.20831.
Article
CAS
PubMed
Google Scholar
Luoma P, Melberg A, Rinne JO, et al: Parkinsonism, premature menopause, and mitochondrial DNA polymerase mutations: Clinical and molecular genetic study. Lancet. 2004, 364: 875-882. 10.1016/S0140-6736(04)16983-3.
Article
CAS
PubMed
Google Scholar
Luoma P, Eerola J, Ahola S, et al: Mitochondrial DNA polymerase gamma variants in idiopathic sporadic Parkinson disease. Neurology. 2007, 69: 1152-1159. 10.1212/01.wnl.0000276955.23735.eb.
Article
CAS
PubMed
Google Scholar
Thyagarajan D, Bressman S, Bruno C, et al: A novel mitochondrial 12SrRNA point mutation in parkinsonism, deafness, and neuropathy. Ann Neurol. 2000, 48: 730-736. 10.1002/1531-8249(200011)48:5<730::AID-ANA6>3.0.CO;2-0.
Article
CAS
PubMed
Google Scholar
Horvath R, Kley RA, Lochmuller H, et al: Parkinson syndrome, neuropathy, and myopathy caused by the mutation A8344G (MERRF) in tRNALys. Neurology. 2007, 68: 56-58. 10.1212/01.wnl.0000250334.48038.7a.
Article
PubMed
Google Scholar
Mancuso M, Nesti C, Petrozzi L, et al: The mtDNA A8344G "MERRF" mutation is not a common cause of sporadic Parkinson disease in Italian population. Parkinsonism Relat Disord. 2008, 14: 381-382. 10.1016/j.parkreldis.2007.10.001.
Article
PubMed
Google Scholar
Van der Walt JM, Nicodemus KK, Martin ER, et al: Mitochondrial polymorphisms significantly reduce the risk of Parkinson's disease. Am J Hum Genet. 2003, 72: 804-811. 10.1086/373937.
Article
PubMed Central
CAS
PubMed
Google Scholar
Pyle A, Foltynie T, Tiangyou W, et al: Mitochondrial DNA haplogroup cluster UKJT reduces the risk of PD. Ann Neurol. 2005, 57: 564-567. 10.1002/ana.20417.
Article
PubMed
Google Scholar
Autere J, Moilanen JS, Finnila S, et al: Mitochondrial DNA polymorphisms as risk factors for Parkinson's disease and Parkinson's disease dementia. Hum Genet. 2004, 115: 29-35. 10.1007/s00439-004-1123-9.
Article
CAS
PubMed
Google Scholar
Ghezzi D, Marelli C, Achilli A, et al: Mitochondrial DNA haplogroup K is associated with a lower risk of Parkinson's disease in Italians. Eur J Hum Genet. 2005, 13: 748-752. 10.1038/sj.ejhg.5201425.
Article
CAS
PubMed
Google Scholar
Huerta C, Castro MG, Coto E, et al: Mitochondrial DNA polymorphisms and risk of Parkinson's disease in Spanish population. J Neurol Sci. 2005, 236: 49-54. 10.1016/j.jns.2005.04.016.
Article
CAS
PubMed
Google Scholar
Swerdlow RH, Parks JK, Cassarino DS, et al: Mitochondria in sporadic amyotrophic lateral sclerosis. Exp Neurol. 1998, 153: 135-142. 10.1006/exnr.1998.6866.
Article
CAS
PubMed
Google Scholar
Gajewski CD, Lin MT, Cudkowicz ME, et al: Mitochondrial DNA from platelets of sporadic ALS patients restores normal respiratory functions in rho(0) cells. Exp Neurol. 2003, 179: 229-235. 10.1016/S0014-4886(02)00022-5.
Article
CAS
PubMed
Google Scholar
Dhaliwal GK, Grewal RP: Mitochondrial DNA deletion mutation levels are elevated in ALS brains. Neuroreport. 2000, 11: 2507-2509. 10.1097/00001756-200008030-00032.
Article
CAS
PubMed
Google Scholar
Ro LS, Lai SL, Chen CM, et al: Deleted 4977-bp mitochondrial DNA mutation is associated with sporadic amyotrophic lateral sclerosis: A hospital-based case-control study. Muscle Nerve. 2003, 28: 737-743. 10.1002/mus.10504.
Article
CAS
PubMed
Google Scholar
Comi GP, Bordoni A, Salani S, et al: Cytochrome c oxidase subunit I microdeletion in a patient with motor neuron disease. Ann Neurol. 1998, 43: 110-116. 10.1002/ana.410430119.
Article
CAS
PubMed
Google Scholar
Kirches E, Winkler K, Vielhaber S, et al: Mitochondrial tRNA(Cys) mutation A5823G in a patient with motor neuron disease and temporal lobe epilepsy. Pathobiology. 1999, 67: 214-218. 10.1159/000028075.
Article
CAS
PubMed
Google Scholar
Borthwick GM, Taylor RW, Walls TJ, et al: Motor neuron disease in a patient with a mitochondrial tRNAIle mutation. Ann Neurol. 2006, 59: 570-574. 10.1002/ana.20758.
Article
CAS
PubMed
Google Scholar
Mancuso M, Conforti FL, Rocchi A, et al: Could mitochondrial haplogroups play a role in sporadic amyotrophic lateral sclerosis?. Neurosci Lett. 2004, 371: 158-162. 10.1016/j.neulet.2004.08.060.
Article
CAS
PubMed
Google Scholar
Chinnery PF, Mowbray C, Elliot H, et al: Mitochondrial DNA haplogroups and amyotrophic lateral sclerosis. Neurogenetics. 2007, 8: 65-67. 10.1007/s10048-006-0066-9.
Article
PubMed
Google Scholar
Ebers GC, Sadovnick AD, Dyment DA, et al: Parent-of-origin effect in multiple sclerosis: observations in half-siblings. Lancet. 2004, 363: 1773-1774. 10.1016/S0140-6736(04)16304-6.
Article
CAS
PubMed
Google Scholar
Flanigan KM, Johns DR: Association of the 11,778 mitochondrial DNA mutation and demyelinating disease. Neurology. 1993, 43: 2720-2722. 10.1212/WNL.43.12.2720.
Article
CAS
PubMed
Google Scholar
Harding AE, Sweeney MG, Millerb H, et al: Occurrence of multiple sclerosis-like illness in women who have a Leber's hereditary optic neuropathy mitochondrial DNA mutation. Brain. 1992, 115: 979-989. 10.1093/brain/115.4.979.
Article
PubMed
Google Scholar
Olsen NK, Hansen AW, Norby S, et al: Leber's hereditary optic neuropathy associated with a disorder indistinguishable from multiple sclerosis in a male harboring the mitochondrial DNA 11.778 mutation. Acta Neurol Scand. 1995, 91: 326-329. 10.1111/j.1600-0404.1995.tb07016.x.
Article
CAS
PubMed
Google Scholar
Hanefeld FA, Ernst BP, Wilichowski E, et al: Leber's hereditary optic neuropathy mitochondrial DNA mutations in childhood multiple sclerosis. Neuropediatrics. 1994, 25: 331-10.1055/s-2008-1073049.
Article
CAS
PubMed
Google Scholar
Kalman B, Lublin FD, Alder H: Mitochondrial DNA mutations in multiple sclerosis. Mult Scler. 1995, 1: 32-36.
CAS
PubMed
Google Scholar
Mihailova SM, Ivanova I, Quin LM, et al: Mitochondrial DNA variants in Bulgarian patients affected by multiple sclerosis. Eur J Neurol. 2007, 14: 44-47. 10.1111/j.1468-1331.2006.01541.x.
Article
CAS
PubMed
Google Scholar
Kalman B, Li S, Chatterjee D, et al: Large scale screening of the mitochondrial DNA reveals no pathogenic mutations but a haplotype associated with multiple sclerosis in Caucasians. Acta Neurol Scand. 1999, 99: 16-25. 10.1111/j.1600-0447.1999.tb05380.x.
Article
CAS
PubMed
Google Scholar
Vogler S, Goedde R, Miterski B, et al: Association of a common polymorphism in the promoter of UCP2 with susceptibility to multiple sclerosis. J Mol Med. 2005, 83: 806-811. 10.1007/s00109-005-0661-5.
Article
CAS
PubMed
Google Scholar
Otaegui D, Saenz A, Ruiz-Martinez J, et al: UCP2 and mitochondrial haplogroups as a multiple sclerosis risk factor. Mult Scler. 2007, 13: 454-458.
CAS
PubMed
Google Scholar
Yu X, Koczan D, Sulonen A, et al: mtDNA nt13708A variant increases the risk of multiple sclerosis. PLoS ONE [Internet]. 2008, 3: e1530-10.1371/journal.pone.0001530. Available at: http://www.plosone.org/article/info:doi/10.1371/journal.pone.0001530
Article
Google Scholar
Samuels DC, Carothers AD, Horton R, et al: The power to detect disease associations with mitochondrial DNA haplogroups. Am J Hum Genet. 2006, 78: 713-720. 10.1086/502682.
Article
PubMed Central
CAS
PubMed
Google Scholar
Shriver MD, Kittles RA: Genetic ancestry and the search for personalized genetic histories. Nat Rev Genet. 2004, 5: 611-618. 10.1038/nrg1405.
Article
CAS
PubMed
Google Scholar