mt4216C variant in linkage with the mtDNA TJ cluster may confer a susceptibility to mitochondrial dysfunction resulting in an increased risk of Parkinson's disease in the Irish

Experimental Gerontology

Volumn 38, Issue 4, 2003, Pages 397-405

  Ross, Owen A ^a,b,c   McCormack, Rose ^a,c   Maxwell, Lynn D ^a,c   Duguid, R Alistair ^c   Quinn, Derek J ^c   Barnett, Yvonne A ^b   Rea, I Maeve ^c   El Agnaf, Omar M A ^c   Gibson, J Mark ^d   Wallace, Andrew ^c   Middleton, Derek ^a,b,c   Curran, Martin D ^a,c  

^a BELFAST CITY HOSPITAL   (United Kingdom)

^b UNIVERSITY OF ULSTER   (United Kingdom)

^c QUEEN'S UNIVERSITY BELFAST   (United Kingdom)

^d ROYAL VICTORIA HOSPITAL   (United Kingdom)

Author keywords

Mitochondrial DNA; Parkinson's disease; Polymorphism

Indexed keywords

GENOMIC DNA; MITOCHONDRIAL DNA;

ADULT; AGED; ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; DISEASE ASSOCIATION; DNA POLYMORPHISM; FEMALE; GENE CLUSTER; GENETIC LINKAGE; GENETIC SUSCEPTIBILITY; HAPLOTYPE; HUMAN; LONGEVITY; MAJOR CLINICAL STUDY; MALE; MITOCHONDRION; PARKINSON DISEASE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; RISK FACTOR;

ADULT; AGED; AGED, 80 AND OVER; CASE-CONTROL STUDIES; DNA, MITOCHONDRIAL; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HAPLOTYPES; HUMANS; IRELAND; LINKAGE (GENETICS); LONGEVITY; MALE; MIDDLE AGED; PARKINSON DISEASE; POINT MUTATION; POLYMORPHISM, GENETIC; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH;

EID: 0037380725     PISSN: 05315565     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0531-5565(02)00266-8     Document Type: Article

References (40)

1. Anderson S., Bankier A.T., Barrell B.G., De Bruijn M.H., Coulson A.R., Drouin J., Eperon I.C., Nierlich D.P., Roe B.A., Sanger F., Schreier P.H., Smith A.J., Staden R., Young I.G. Sequence and organisation of the human mitochondrial genome? Nature. 290:1981;457-465.
2. Brown M.D., Shoffner J.M., Kim Y.L., Jun A.S., Graham B.H., Cabell M.F., Gurley D.S., Wallace D.C. Mitochondrial DNA sequence analysis of four Alzheimer's and Parkinson's disease patients. Am. J. Hum. Genet. 61:1996;281-289.
3. Brown M.D., Starikovskaya E., Derbeneva O., Hosseini S., Allen J.C., Mikhailovskaya I.E., Sukernik R.I., Wallace D.C. The role mtDNA background in disease expression: a primary LHON mutation associated with Western Eurasian haplogroup J. Hum. Genet. 110:2002;130-138.
4. Calabrese V., Scapagnini G., Giuffrida Stella A.M., Bates T.E., Clark J.B. Mitochondrial involvement in brain function and dysfunction: relevance to aging, neurodegenerative disorders and longevity. Neurochem. Res. 26:(6):2001;739-764.
5. Chinnery P.F., Taylor G.A., Howell N., Andrews R.M., Morris C.M., Taylor R.W., McKeith I.G., Perry R.H., Edwardson J.A., Turnbull D.M. Mitochondrial DNA haplogroups and susceptibility to AD and dementia with Lewy bodies. Neurology. 55:(2):2000;302-304.
6. Curran M.D., Williams F., Earle J.A.P., Rima B.K., van Dam M.G., Bunce M., Middleton D. Long-range PCR amplification as an alternative strategy for characterizing novel HLA-B alleles. Eur. J. Immunogenet. 23:1996;297-309.
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., Franceschi C. Mitochondrial DNA inherited variants are associated with successful aging and longevity in humans. FASEB J. 13:1999;1532-1536.
8. De Benedictis G., Carrieri G., Varcasia O., Bonafe M., Franceschi C. Inherited variability of the mitochondrial genome and successful aging in humans. Ann. NY Acad. Sci. 908:2000;208-218.
9. DiMonte D. Mitochondrial DNA and Parkinson's disease. Neurology. 41:1991;38-42.
10. Egensperger R., Kosel S., Schnopp N.M., Mehraein P., Graeber M.B. Association of the mitochondrial tRNA (A4336G) mutation with Alzheimer's and Parkinson's diseases. Neuropathol. Appl. Neurobiol. 23:(4):1997;315-321.
11. Felstenstein, J., 1993. PHYLIP (Phylogenetic inference package). Version 3.5c. Department of Genetics, SK-50, University of Washington, Seattle, WA.
12. Finnila S., Majamaa K. Phylogenetic analysis of mtDNA haplogroup TJ in a Finnish population. J. Hum. Genet. 46:2001;64-69.
13. Finnila S., Lehtonen M.S., Majamaa K. Phylogenetic network for European mtDNA. Am. J. Hum. Genet. 68:2001;1475-1484.
14. Gu M., Cooper J.M., Taanman J.W., Schapira A.H.V. Mitochondrial DNA transmission of the mitochondrial defect in Parkinson's disease. Ann. Neurol. 44:1998;177-186.
15. Harding A.E., Riordan-Eva P., Govan G.G. Mitochondrial DNA diseases: genotype and phenotype in Leber's hereditary optic neuropathy. Muscle & Nerve. Suppl. 3:1995;S82-S84.
16. Howell N., Kubacka I., Xu M., McCullough D.A. Leber hereditary optic neuropathy: involvement of the mitochondrial ND1 gene and evidence for an intragenic suppressor mutation. Am. J. Hum. Genet. 48:1991;935-942.
17. Howell N., Bindoff L.A., McCullough D.A., Kubacka I., Poulton J., Mackey D., Taylor L., Turnbull D.M. Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees. Am. J. Hum. Genet. 49:1991;939-950.
18. Ikebe S.-I., Tanaka M., Ozawa T. Point mutations of mitochondrial genome in Parkinson's disease. Mol. Brain Res. 28:1995;281-295.
19. Jenner P. Oxidative mechanisms in nigral cell death in Parkinson's disease. Mov. Disord. 13:(Suppl. 1):1998;24-34.
20. Kirchner S.C., Hallagan S.E., Farin F.M., Dilley J., Costa-Mallen P., Smith-Weller T., Franklin G.M., Swanson P.D., Checkoway H. Mitochondrial ND1 sequence analysis and association of the T4216C mutation with Parkinson's disease. Neurotoxicology. 21:(4):2000;441-446.
21. Kosel S., Grasbon-Frodl E.M., Mautsch U., Egensperger R., von Eitzen U., Frishman D., Hofmann S., Gerbitz K.-D., Mehraein P., Graeber M.B. Novel mutations of mitochondrial complex I in pathologically proven Parkinson disease. Neurogenetics. 1:1998;197-204.
22. Lam C.W., Yang T., Tsang M.W., Pang C.P. Homoplasmic 3316G-A in the ND1 gene of the mitochondrial genome: a pathogenic mutation or a neutral polymorphism? J. Med. Genet. 38:(3):2001;E10.
23. Lodi R., Montagna P., Cortelli P., Iotti S., Cevoli S., Carelli V., Barbiroli B. 'Secondary' 4216/ND1 and 13708/ND5 Leber's hereditary optic neuropathy mitochondrial DNA mutations do not further impair in vivo mitochondrial oxidative metabolism when associated with the 11778/ND4 mitochondrial DNA mutation. Brain. 123:2000;1896-1902.
24. Macaulay V., Richards M., Hickey E., Vega E., Cruciani F., Guida V., Scozzari R., Bonne-Tamir B., Sykes B., Torroni A. The emerging tree of west Eurasian mtDNAs: a synthesis of control-region sequences and RFLPs. Am. J. Hum. Genet. 64:1999;232-249.
25. Mann V.M., Cooper J.M., Krige D., Daniel S.E., Schapira A.H., Marsden C.D. Brain, muscle and platelet homogenate mitochondrial function in Parkinson's disease. Brain. 115:(2):1992;333-342.
26. Matsumoto M., Hayasaka S., Kadoi C., Hotta Y., Fujiki K., Fujimaki T., Takeda M., Ishida N., Endo S., Kanai A. Secondary mutations of mitochondrial DNA in Japanese patients with Leber's hereditary optic neuropathy. Ophthal. Genet. 20:(3):1999;153-160.
27. Rose G., Passarino G., Carrieri G., Altomare K., Greco V., Bertolini S., Bonafe M., Franceschi C., De Benedictis G. Paradoxes in longevity: sequence analysis of mtDNA haplogroup J in centenarians. Eur. J. Hum. Genet. 9:(9):2001;701-707.
28. Rose G., Passarino G., Franceschi C., De Benedictis G. The variability of the mitochondrial genome in human aging: a key for life and death? Int. J. Biochem. Cell Biol. 34:2002;1449-1460.
29. Ross O.A., McCormack R., Curran M.D., Duguid R.A., Barnett Y.A., Rea I.M., Middleton D. Mitochondrial DNA polymorphism: its role in longevity of the Irish population. Exp. Gerontol. 36:(7):2001;1161-1179.
30. Schapira A., Cooper J., Dexter D., Clark J.B., Marsden C.D. Mitochondrial complex I deficiency in Parkinson's disease. J. Neurochem. 55:1992;2142-2145.
31. Shoffner J.M., Watts R.L., Juncos J.L., Torroni A., Wallace D.C. Mitochondrial oxidative phosphorylation defects in Parkinson's disease. Ann. Neurol. 30:1991;332-339.
32. Shoffner J.M., Brown M.D., Torrini A., Lott M.T., Cabell M.F., Mirra S.S., Beal M.F., Yang C.-C., Gearing M., Salvo R., Watts R.L., Juncos J.L., Hansen L.A., Crain B.J., Fayed M., Reckord C.L., Wallace D.C. Mitochondrial DNA variants observed in Alzheimer disease and Parkinson disease patients. Genomics. 17:1993;171-184.
33. Simon D.K., Mayeux R., Marder K., Kowall N.W., Beal M.F., Johns D.R. Mitochondrial DNA mutations in complex I and tRNA genes in Parkinson's disease. Neurology. 54:2000;703-709.
34. Smith P., Cooper J., Govan G., Harding A., Schapira A. Platelet mitochondrial function in Leber's hereditary optic neuropathy. J. Neurol. Sci. 122:1994;80-83.
35. Thyagarajan D., Bressman S., Bruno C., Przedborski S., Shanske S., Lynch T., Fahn S., DiMauro S. A novel mitochondrial 12SrRNA point mutation in Parkinsonism, deafness, and neuropathy. Ann. Neurol. 48:2000;730-736.
36. Tipton K.F., McCrodden J.M., Sullivan J.P. Metabolic aspects of the behavior of MPTP and some analogues. Adv. Neurol. 60:1993;186-193.
37. Torroni A., Lott M.T., Cabell M.F., Chen Y.-S., Lavergne L., Wallace D.C. mtDNA and the Origin of Caucasians: identification of ancient Caucasian specific haplotypes, one of which is prone to a recurrent somatic duplication in the D-loop region. Am. J. Hum. Genet. 55:1994;760-776.
38. Torroni A., Petrozzi M., D'Urbano L., Sellitto D., Zeviani M., Carrara F., Carducci C., Leuzzi V., Carelli V., Barboni P., De Negri A., Scozzari R. Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484. Am. J. Hum. Genet. 60:1997;1107-1121.
39. Vives-Bauza C., Andreu A.L., Manfredi G., Beal M.F., Janetzky B., Gruenewald T.H., Lin M.T. Sequence analysis of the entire mitochondrial genome in Parkinson's disease. Biochem. Biophys. Res. Commun. 290:2002;1593-1601.
40. Yoshino H., Nakagawa-Hattori Y., Kondo T., Mizuno Y. Mitochondrial complex I and II activities of lymphocytes and platelets in Parkinson's disease. J. Neural. Transmiss. 4:1992;27-34.