mtDNA variation, climatic adaptation, degenerative diseases, and longevity

Cold Spring Harbor Symposia on Quantitative Biology

Volumn 68, Issue , 2003, Pages 479-486

  Wallace, D C ^a   Ruiz Pesini, E ^a   Mishmar, D ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA; TRANSFER RNA;

ADAPTATION; AGING; ALZHEIMER DISEASE; CLIMATE; CONFERENCE PAPER; DEGENERATIVE DISEASE; DNA SEQUENCE; ENERGY METABOLISM; GENE MUTATION; GENETIC DRIFT; HAPLOTYPE; HUMAN; LEBER HEREDITARY OPTIC NEUROPATHY; LONGEVITY; MELAS SYNDROME; MERRF SYNDROME; MITOCHONDRIAL MEMBRANE; MITOCHONDRION; NEUROLOGIC DISEASE; PARKINSON DISEASE; PHENOTYPE; PHYLOGENY; POPULATION GENETICS; PRIORITY JOURNAL;

ADAPTATION, PHYSIOLOGICAL; ALZHEIMER DISEASE; CLIMATE; DNA, MITOCHONDRIAL; ENERGY METABOLISM; GENETICS, POPULATION; HAPLOTYPES; HUMANS; LONGEVITY; MITOCHONDRIA; MUTATION; PARKINSON DISEASE; POLYMORPHISM, GENETIC; VARIATION (GENETICS);

EID: 3242676865     PISSN: 00917451     EISSN: None     Source Type: Book Series    
DOI: None     Document Type: Conference Paper

References (32)

1. Brown M.D., Sun F., and Wallace D.C. 1997. Clustering of Caucasian Leber hereditary optic neuropathy patients containing the 11778 or 14484 mutations on an mtDNA lineage. Am. J. Hum. Genet. 60: 381.
2. Brown M.D., Starikovskaya E., Derbeneva O., Hosseini S., Allen J.C., Mikhailovskaya I.E., Sukernik R.I., and Wallace D.C. 2002. The role of mtDNA background in disease expression: A new primary LHON mutation associated with Western Eurasian haplogroup J. Hum. Genet. 110: 130.
3. Brown M.D., Hosseini S.H., Torroni A., Bandelt H.J., Allen J.C., Schurr T.G., Scozzari R., Cruciani F., and Wallace D.C. 1998. mtDNA haplogroup X: An ancient link between Europe/Western Asia and North America? Am. J. Hum. Genet. 63: 1852.
4. Carrieri G., Bonafe M., DeLuca M., Rose G., Varcasia O., Bruni A., Maletta R., Nacmias B., Sorbi S., Corsonello F., Feraco E., Andreev K.F., Yashin A.I., Franceschi C., and De Benedictis G. 2001. Mitochondrial DNA haplogroups and APOE4 allele are non-independent variables in sporadic Alzheimer's disease. Hum. Genet. 108: 194.
5. Chagnon P., Gee M., Filion M., Robitaille Y., Belouchi M., and Gauvreau D. 1999. 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. 85: 20.
6. Coskun P.E., Ruiz-Pesini E., and Wallace D.C. 2003. Control region mtDNA variants: Longevity, climatic adaptation, and a forensic conundrum. Proc. Natl. Acad. Sci. 100: 2174.
7. De Benedictis G., Rose G., Carrieri G., De Luca M., Falcone E., Passarino G., Bonafe M., Monti D., Baggio G., Bertolini S., Mari D., Mattace R., and Franceschi C. 1999. Mitochondrial DNA inherited variants are associated with successful aging and longevity in humans. FASEB J. 13: 1532.
8. Friberg H. and Wieloch T. 2002. Mitochondrial permeability transition in acute neurodegeneration. Biochimie 84: 241.
9. Hofmann S., Bezold R., Jaksch M., Obermaier-Kusser B., Mertens S., Kaufhold P., Rabl W., Hecker W., and Gerbitz K.D. 1997. Wolfram (DIDMOAD) syndrome and Leber hereditary optic neuropathy (LHON) are associated with distinct mitochondrial DNA haplotypes. Genomics 39: 8.
10. Ivanova R., Lepage V., Charron D., and Schachter F. 1998. Mitochondrial genotype associated with French Caucasian centenarians. Gerontology 44: 349.
11. Jacobs H.T. 2003. The mitochondrial theory of aging: Dead or alive? Aging Cell 2: 11.
12. Kadenbach B. 2003. Intrinsic and extrinsic uncoupling of oxidative phosphorylation. Biochim. Biophys. Acta 1604: 77.
13. Kagawa Y., Cha S.H., Hasegawa K., Hamamoto T., and Endo H. 1999. Regulation of energy metabolism in human cells in aging and diabetes: FoF(1), mtDNA, UCP, and ROS. Biochem. Biophys. Res. Commun. 266: 662.
14. Kalman B., Lublin F.D., and Alder H. 1996. Characterization of the mitochondrial DNA in patients with multiple sclerosis. J. Neurol. Sci. 140: 75.
15. Malhi R.S. and Smith D.G. 2002. Brief communication: Haplogroup X confirmed in prehistoric North America. Am. J. Phys. Anthropol. 119: 84.
16. Mishmar D., Ruiz-Pesini E., Brandon M., and Wallace D.C. 2003a. Mitochondrial DNA-like sequences in the nucleus (NUMTS): Insights into our African origins and the mechanism of foreign DNA integration. Hum. Mutat. (in press).
17. Mishmar D., Ruiz-Pesini E., Golik P., Macaulay V., Clark A.G., Hosseini S., Brandon M., Easley K., Chen E., Brown M.D., Sukernik R.I., Olckers A., and Wallace D.C. 2003b. Natural selection shaped regional mtDNA variation in humans. Proc. Natl. Acad. Sci. 100: 171.
18. Niemi A.K., Hervonen A., Hurme M., Karhunen P.J., Jylha M., and Majamaa K. 2003. Mitochondrial DNA polymorphisms associated with longevity in a Finnish population. Hum. Genet. 112: 29.
19. Quintana-Murci L., Semino O., Bandelt H.J., Passarino G., McElreavey K., and Santachiara-Benerecetti A.S. 1999. Genetic evidence of an early exit of Homo sapiens sapiens from Africa through eastern Africa. Nat. Genet. 23: 437.
20. Ross O.A., McCormack R., Curran M.D., Duguid R.A., Barnett Y.A., Rea I.M., and Middleton D. 2001. Mitochondrial DNA polymorphism: Its role in longevity of the Irish population. Exp. Gerontol. 36: 1161.
21. Ruiz-Pesini E., Mishmar D., Brandon M., Procaccio V., and Wallace D.C. 2004. Effects of purifying and adoptive selection on regional variation in human mtDNA. Science (in press).
22. Ruiz-Pesini E., Lapena A.C., Diez-Sanchez C., Perez-Martos A., Montoya J., Alvarez E., Diaz M., Urries A., Montoro L., Lopez-Perez M.J., and Enriquez J.A. 2000. Human mtDNA haplogroups associated with high or reduced spermatozoa motility. Am. J. Hum. Genet. 67: 682.
23. Schurr T.G. and Wallace D.C. 2002. Mitochondrial DNA diversity in Southeast Asian populations. Hum. Biol. 74: 431.
24. Stone A.C. and Stoneking M. 1998. mtDNA analysis of a prehistoric Oneota population: Implications for the peopling of the New World. Am. J. Hum. Genet. 62: 1153.
25. Tatuch Y., Christodoulou J., Feigenbaum A., Clarke J.T.R., Wherret J., Smith C., Rudd N., Petrova-Benedict R., and Robinson B.H. 1992. Heteroplasmic mtDNA mutation (T-G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high. Am. J. Hum. Genet. 50: 852.
26. Templeton A.R. 1996. Contingency tests of neutrality using intra/interspecific gene trees: The rejection of neutrality for the evolution of the mitochondrial cytochrome oxidase II gene in the hominoid primates. Genetics 144: 1263.
27. van der Walt J.M., Nicodemus K.K., Martin E.R., Scott W.K., Nance M.A., Watts R.L., Hubble J.P., Haines J.L., Koller W.C., Lyons K., Pahwa R., Stern M.B., Colcher A., Hiner B.C., Jankovic J., Ondo W.G., Allen F.H., Jr., Goetz C.G., Small G.W., Mastaglia F., Stajich J.M., McLaurin A.C., Middleton L.T., Scott B.L., Schmechel D.E., Pericak-Vance M.A., and Vance J.M. 2003. Mitochondrial polymorphisms significantly reduce the risk of Parkinson disease. Am. J. Hum. Genet. 72: 804.
28. Wallace D.C. 1999. Mitochondrial diseases in man and mouse. Science 283: 1482.
29. -. 2001a. Mitochondrial defects in neurodegenerative disease. Ment. Retard. Dev. Disabil. Res. Rev. 7: 158.
30. -. 2001b. A mitochondrial paradigm for degenerative diseases and ageing (also see discussion). Novartis Found. Symp. 235: 247.
31. Wallace D.C. and Lott M.T. 1999. Mitochondrial bioenergetics and reactive oxygen species in degenerative diseases and aging. In Molecular biology of aging (ed. V.A. Bohr et al.). Alfred Benzon Symp. 44: 125. Munksgaard, Copenhagen.
32. Wallace D.C., Brown M.D., and Lott M.T. 1999. Mitochondrial DNA variation in human evolution and disease. Gene 238: 211.