Maternal inheritance and mitochondrial DNA variants in familial Parkinson's disease

BMC Medical Genetics

Volumn 11, Issue 1, 2010, Pages

  Simon, David K ^a   Pankratz, Nathan ^b   Kissell, Diane K ^c   Pauciulo, Michael W ^c   Halter, Cheryl A ^b   Rudolph, Alice ^d   Pfeiffer, Ronald F ^e   Nichols, William C ^c,f   Foroud, Tatiana ^b  

^a HARVARD MEDICAL SCHOOL   (United States)

^b INDIANA UNIVERSITY MEDICAL CENTER   (United States)

^c CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

^d UNIVERSITY OF ROCHESTER SCHOOL OF MEDICINE AND DENTISTRY   (United States)

^e UNIVERSITY OF TENNESSEE COLLEGE OF MEDICINE   (United States)

^f UNIVERSITY OF CINCINNATI COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA;

ADULT; AGE DISTRIBUTION; ARTICLE; CASE CONTROL STUDY; CONTROLLED STUDY; EXTRACHROMOSOMAL INHERITANCE; FAMILIAL PARKINSON DISEASE; FEMALE; FISHER EXACT TEST; GENE FREQUENCY; GENE MUTATION; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC RISK; GENETIC VARIABILITY; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; ONSET AGE; PARKINSON DISEASE; STUDENT T TEST; AGED; CHEMISTRY; FAMILY; GENETICS; GENOTYPE; INHERITANCE; MIDDLE AGED; RISK; RISK FACTOR;

ADULT; AGE OF ONSET; AGED; AGED, 80 AND OVER; CASE-CONTROL STUDIES; DNA, MITOCHONDRIAL; FAMILY; FEMALE; GENE FREQUENCY; GENETIC VARIATION; GENOTYPE; HAPLOTYPES; HUMANS; INHERITANCE PATTERNS; MALE; MIDDLE AGED; ODDS RATIO; PARKINSON DISEASE; POLYMORPHISM, GENETIC; RISK FACTORS;

EID: 77950537479     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-11-53     Document Type: Article

References (48)

1. Parker WD, Boyson SJ, Parks JK. Abnormalities of the electron transport chain in idiopathic Parkinson's disease. Ann Neurol 1989, 26(6):719-723. 10.1002/ana.410260606, 2557792.
2. Schapira AH, Cooper JM, Dexter D, Jenner P, Clark JB, Marsden CD. Mitochondrial complex I deficiency in Parkinson's disease. Lancet 1989, 1(8649):1269. 10.1016/S0140-6736(89)92366-0, 2566813.
3. Greenamyre JT, Betarbet R, Sherer TB. The rotenone model of Parkinson's disease: genes, environment and mitochondria. Parkinsonism Relat Disord 2003, 9(Suppl 2):S59-64. 10.1016/S1353-8020(03)00023-3, 12915069.
4. Langston JW. The etiology of Parkinson's disease with emphasis on the MPTP story. Neurology 1996, 47(6 Suppl 3):S153-160.
5. Swerdlow RH, Parker WD, Currie LJ, Bennett JP, Harrison MB, Trugman JM, Wooten GF. Gender ratio differences between Parkinson's disease patients and their affected relatives. Parkinsonism Relat Disord 2001, 7(2):129-133. 10.1016/S1353-8020(00)00029-8, 11248594.
6. Wooten GF, Currie LJ, Bennett JP, Harrison MB, Trugman JM, Parker WD. Maternal inheritance in Parkinson's disease. Ann Neurol 1997, 41(2):265-268. 10.1002/ana.410410218, 9029076.
7. De Michele G, Filla A, Marconi R, Volpe G, D'Alessio A, Scala R, Ambrosio G, Campanella G. A genetic study of Parkinson's disease. J Neural Transm Suppl 1995, 45:21-25.
8. Zweig RM, Singh A, Cardillo JE, Langston JW. The familial occurrence of Parkinson's disease. Lack of evidence for maternal inheritance [published erratum appears in Arch Neurol 1993 Feb;50(2):153]. Arch Neurol 1992, 49(11):1205-1207.
9. Gu M, Cooper JM, Taanman JW, Schapira AH. Mitochondrial DNA transmission of the mitochondrial defect in Parkinson's disease. Ann Neurol 1998, 44(2):177-186. 10.1002/ana.410440207, 9708539.
10. Swerdlow RH, Parks JK, Miller SW, Tuttle JB, Trimmer PA, Sheehan JP, Bennett JP, Davis RE, Parker WD. Origin and functional consequences of the complex I defect in Parkinson's disease. Ann Neurol 1996, 40(4):663-671. 10.1002/ana.410400417, 8871587.
11. Swerdlow RH, Parks JK, Davis JN, Cassarino DS, Trimmer PA, Currie LJ, Dougherty J, Bridges WS, Bennett JP, Wooten GF, et al. Matrilineal inheritance of complex I dysfunction in a multigenerational Parkinson's disease family. Ann Neurol 1998, 44(6):873-881. 10.1002/ana.410440605, 9851431.
12. Casali C, Bonifati V, Santorelli FM, Casari G, Fortini D, Patrignani A, Fabbrini G, Carrozzo R, D'Amati G, Locuratolo N, et al. Mitochondrial myopathy, parkinsonism, and multiple mtDNA deletions in a Sephardic Jewish family. Neurology 2001, 56(6):802-805.
13. Chalmers RM, Brockington M, Howard RS, Lecky BR, Morgan-Hughes JA, Harding AE. Mitochondrial encephalopathy with multiple mitochondrial DNA deletions: a report of two families and two sporadic cases with unusual clinical and neuropathological features. J Neurol Sci 1996, 143(1-2):41-45. 10.1016/S0022-510X(96)00032-9, 8981296.
14. Horvath R, Kley RA, Lochmuller H, Vorgerd M. Parkinson syndrome, neuropathy, and myopathy caused by the mutation A8344G (MERRF) in tRNALys. Neurology 2007, 68(1):56-58. 10.1212/01.wnl.0000250334.48038.7a, 17200493.
15. Luoma P, Melberg A, Rinne JO, Kaukonen JA, Nupponen NN, Chalmers RM, Oldfors A, Rautakorpi I, Peltonen L, Majamaa K, et al. Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study. Lancet 2004, 364:875-882. 10.1016/S0140-6736(04)16983-3, 15351195.
16. Pagnamenta AT, Taanman JW, Wilson CJ, Anderson NE, Marotta R, Duncan AJ, Bitner-Glindzicz M, Taylor RW, Laskowski A, Thorburn DR, et al. Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gamma. Hum Reprod 2006, 21(10):2467-2473. 10.1093/humrep/del076, 16595552.
17. Simon DK, Pulst SM, Sutton JP, Browne SE, Beal MF, Johns DR. Familial multisystem degeneration with parkinsonism associated with the 11778 mitochondrial DNA mutation. Neurology 1999, 53(8):1787-1793.
18. 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 2000, 48(5):730-736. 10.1002/1531-8249(200011)48:5<730::AID-ANA6>3.0.CO;2-0, 11079536.
19. Simon DK, Mayeux R, Marder K, Kowall NW, Beal MF, Johns DR. Mitochondrial DNA mutations in complex I and tRNA genes in Parkinson's disease. Neurology 2000, 54:703-709.
20. Vives-Bauza C, Andreu AL, Manfredi G, Beal MF, Janetzky B, Gruenewald TH, Lin MT. Sequence analysis of the entire mitochondrial genome in Parkinson's disease. Biochem Biophys Res Commun 2002, 290(5):1593-1601. 10.1006/bbrc.2002.6388, 11820805.
21. Bandmann O, Sweeney MG, Daniel SE, Marsden CD, Wood NW. Mitochondrial DNA polymorphisms in pathologically proven Parkinson's disease. J Neurol 1997, 244(4):262-265. 10.1007/s004150050082, 9112596.
22. Parker WD, Parks JK. Mitochondrial ND5 mutations in idiopathic Parkinson's disease. Biochem Biophys Res Commun 2005, 326(3):667-669. 10.1016/j.bbrc.2004.11.093, 15596151.
23. Smigrodzki R, Parks J, Parker WD. High frequency of mitochondrial complex I mutations in Parkinson's disease and aging. Neurobiol Aging 2004, 25(10):1273-1281. 10.1016/j.neurobiolaging.2004.02.020, 15465623.
24. Ghezzi D, Marelli C, Achilli A, Goldwurm S, Pezzoli G, Barone P, Pellecchia MT, Stanzione P, Brusa L, Bentivoglio AR, et al. Mitochondrial DNA haplogroup K is associated with a lower risk of Parkinson's disease in Italians. Eur J Hum Genet 2005, 13(6):748-752. 10.1038/sj.ejhg.5201425, 15827561.
25. Huerta C, Castro MG, Coto E, Blazquez M, Ribacoba R, Guisasola LM, Salvador C, Martinez C, Lahoz CH, Alvarez V. Mitochondrial DNA polymorphisms and risk of Parkinson's disease in Spanish population. J Neurol Sci 2005, 236(1-2):49-54. 10.1016/j.jns.2005.04.016, 15975594.
26. Autere J, Moilanen JS, Finnila S, Soininen H, Mannermaa A, Hartikainen P, Hallikainen M, Majamaa K. Mitochondrial DNA polymorphisms as risk factors for Parkinson's disease and Parkinson's disease dementia. Hum Genet 2004, 115(1):29-35. 10.1007/s00439-004-1123-9, 15108120.
27. Gaweda-Walerych K, Maruszak A, Safranow K, Bialecka M, Klodowska-Duda G, Czyzewski K, Slawek J, Rudzinska M, Styczynska M, Opala G, et al. Mitochondrial DNA haplogroups and subhaplogroups are associated with Parkinson's disease risk in a Polish PD cohort. J Neural Transm 2008, 115(11):1521-1526. 10.1007/s00702-008-0121-9, 18810306.
28. Khusnutdinova E, Gilyazova I, Ruiz-Pesini E, Derbeneva O, Khusainova R, Khidiyatova I, Magzhanov R, Wallace DC. A mitochondrial etiology of neurodegenerative diseases: evidence from Parkinson's disease. Ann N Y Acad Sci 2008, 1147:1-20.
29. Latsoudis H, Spanaki C, Chlouverakis G, Plaitakis A. Mitochondrial DNA polymorphisms and haplogroups in Parkinson's disease and control individuals with a similar genetic background. J Hum Genet 2008, 53(4):349-356. 10.1007/s10038-008-0259-1, 18286226.
30. Mehta P, Mellick GD, Rowe DB, Halliday GM, Jones MM, Manwaring N, Vandebona H, Silburn PA, Wang JJ, Mitchell P, et al. Mitochondrial DNA haplogroups J and K are not protective for Parkinson's disease in the Australian community. Mov Disord 2009, 24(2):290-292. 10.1002/mds.22389, 19086081.
31. Ross OA, McCormack R, Maxwell LD, Duguid RA, Quinn DJ, Barnett YA, Rea IM, El-Agnaf OM, Gibson JM, Wallace A, et al. 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. Exp Gerontol 2003, 38(4):397-405. 10.1016/S0531-5565(02)00266-8, 12670626.
32. Walt JM, Nicodemus KK, Martin ER, Scott WK, Nance MA, Watts RL, Hubble JP, Haines JL, Koller WC, Lyons K, et al. Mitochondrial Polymorphisms Significantly Reduce the Risk of Parkinson Disease. Am J Hum Genet 2003, 72(4):4.
33. Richards M, Marder K, Cote L, Mayeux R. Interrater reliability of the Unified Parkinson's Disease Rating Scale motor examination. Mov Disord 1994, 9(1):89-91. 10.1002/mds.870090114, 8139610.
34. Hughes AJ, Daniel SE, Kilford L, Lees AJ. Accuracy of clinical diagnosis of idiopathic Parkinson's disease: a clinico-pathological study of 100 cases. J Neurol Neurosurg Psychiatry 1992, 55(3):181-184. 10.1136/jnnp.55.3.181, 1014720, 1564476.
35. Pankratz N, Nichols WC, Uniacke SK, Halter C, Rudolph A, Shults C, Conneally PM, Foroud T. Genome Screen to Identify Susceptibility Genes for Parkinson Disease in a Sample without parkin Mutations. Am J Hum Genet 2002, 71(1):124-135. 10.1086/341282, 384969, 12058349.
36. Gunderson KL, Steemers FJ, Ren H, Ng P, Zhou L, Tsan C, Chang W, Bullis D, Musmacker J, King C, et al. Whole-genome genotyping. Methods Enzymol 2006, 410:359-376. 10.1016/S0076-6879(06)10017-8, 16938560.
37. Pankratz N, Wilk JB, Latourelle JC, DeStefano AL, Halter C, Pugh EW, Doheny KF, Gusella JF, Nichols WC, Foroud T, et al. Genomewide association study for susceptibility genes contributing to familial Parkinson disease. Hum Genet 2009, 124(6):593-605. 10.1007/s00439-008-0582-9, 2627511, 18985386.
38. Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, Bender D, Maller J, Sklar P, de Bakker PI, Daly MJ, et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 2007, 81(3):559-575. 10.1086/519795, 1950838, 17701901.
39. Herrnstadt C, Elson JL, Fahy E, Preston G, Turnbull DM, Anderson C, Ghosh SS, Olefsky JM, Beal MF, Davis RE, et al. Reduced-median network analysis of complete mitochondrial DNA coding-region sequences for the major African, Asian, and European haplogroups. Am J Hum Genet 2002, 70:1152-1171. 10.1086/339933, 447592, 11938495.
40. Pyle A, Foltynie T, Tiangyou W, Lambert C, Keers SM, Allcock LM, Davison J, Lewis SJ, Perry RH, Barker R, et al. Mitochondrial DNA haplogroup cluster UKJT reduces the risk of PD. Ann Neurol 2005, 57(4):564-567. 10.1002/ana.20417, 15786469.
41. Maher NE, Currie LJ, Lazzarini AM, Wilk JB, Taylor CA, Saint-Hilaire MH, Feldman RG, Golbe LI, Wooten GF, Myers RH. Segregation analysis of Parkinson disease revealing evidence for a major causative gene. Am J Med Genet 2002, 109(3):191-197. 10.1002/ajmg.10335, 11977177.
42. Clark LN, Wang Y, Karlins E, Saito L, Mejia-Santana H, Harris J, Louis ED, Cote LJ, Andrews H, Fahn S, et al. Frequency of LRRK2 mutations in early- and late-onset Parkinson disease. Neurology 2006, 67(10):1786-1791. 10.1212/01.wnl.0000244345.49809.36, 17050822.
43. Lucking CB, Durr A, Bonifati V, Vaughan J, De Michele G, Gasser T, Harhangi BS, Meco G, Denefle P, Wood NW, et al. Association between early-onset Parkinson's disease and mutations in the parkin gene. French Parkinson's Disease Genetics Study Group. N Engl J Med 2000, 342(21):1560-1567. 10.1056/NEJM200005253422103, 10824074.
44. Klein C. Implications of genetics on the diagnosis and care of patients with Parkinson disease. Arch Neurol 2006, 63(3):328-334. 10.1001/archneur.63.3.328, 16533959.
45. de la Fuente-Fernandez R. Maternal effect on Parkinson's disease. Ann Neurol 2000, 48(5):782-787. 10.1002/1531-8249(200011)48:5<782::AID-ANA12>3.0.CO;2-E, 11079542.
46. Carvey PM, Chang Q, Lipton JW, Ling Z. Prenatal exposure to the bacteriotoxin lipopolysaccharide leads to long-term losses of dopamine neurons in offspring: a potential, new model of Parkinson's disease. Front Biosci 2003, 8:s826-837. 10.2741/1158, 12957870.
47. Ling Z, Gayle DA, Ma SY, Lipton JW, Tong CW, Hong JS, Carvey PM. In utero bacterial endotoxin exposure causes loss of tyrosine hydroxylase neurons in the postnatal rat midbrain. Mov Disord 2002, 17(1):116-124. 10.1002/mds.10078, 11835448.
48. Simon DK, Lin MT, Zheng L, Liu GJ, Ahn CH, Kim LM, Mauck WM, Twu F, Beal MF, Johns DR. Somatic mitochondrial DNA mutations in cortex and substantia nigra in aging and Parkinson's disease. Neurobiol Aging 2004, 25(1):71-81. 10.1016/S0197-4580(03)00037-X, 14675733.