Inherited and somatic mitochondrial DNA mutations in Guam amyotrophic lateral sclerosis and parkinsonism-dementia

Neurological Sciences

Volumn 32, Issue 5, 2011, Pages 883-892

  Reiff, Dana M ^a   Spathis, Rita ^a   Chan, Chim W ^a   Vilar, Miguel G ^a,b   Sankaranarayanan, Krithivasan ^a   Lynch, Daniel ^a,c   Ehrlich, Emily ^a   Kerath, Samantha ^a   Chowdhury, Risana ^a   Robinowitz, Leah ^a   Koji Lum, J ^a   Garruto, Ralph M ^a  

^a BINGHAMTON UNIVERSITY   (United States)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

^c Laboratory of Molecular and Cellular Biology of Hematopoiesis   (United States)

Author keywords

ALS; Guam; Inherited mutation; PD; Somatic mutation

Indexed keywords

MITOCHONDRIAL DNA;

AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; BRAIN TISSUE; CONTROLLED STUDY; DEMENTIA; DNA SEQUENCE; GENE DELETION; GENE SEQUENCE; GUAM; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MITOCHONDRIAL GENOME; NUCLEOTIDE SEQUENCE; PARKINSONISM; SINGLE NUCLEOTIDE POLYMORPHISM; SOMATIC MUTATION;

ADULT; AMYOTROPHIC LATERAL SCLEROSIS; DNA, MITOCHONDRIAL; GENE FREQUENCY; HAPLOTYPES; HUMANS; MITOCHONDRIA; MUTATION;

EID: 80054701289     PISSN: 15901874     EISSN: 15903478     Source Type: Journal    
DOI: 10.1007/s10072-011-0735-9     Document Type: Article

References (75)

1. A Hirano LT Kurland RS Krooth S Lessell 1961 Parkinsonism-dementia complex, an endemic disease on the island of Guam. I. Clinical features. Brain 84 642 661 13907609 10.1093/brain/84.4.642 1:STN:280:DyaF38%2FkvV2qtg%3D%3D
2. LT Kurland DW Mulder 1954 Epidemiologic investigations of amyotrophic lateral sclerosis. I. Preliminary report on geographic distribution with special reference to the Mariana Islands, including clinical and pathological observations Neurology 4 355-378 438 448 13165883 1:STN:280: DyaG2c%2FosF2jtA%3D%3D
3. Y Yase N Matsumoto F Yoshimasu Y Handa 1973 Clinico-epidemiological studies in a new focus of motor neuron disease in Japan Neurol India 20 531 539
4. DC Gajdusek 1963 Motor-neuron disease in natives of New Guinea New Engl J Med 268 474 476 13946175 10.1056/NEJM196302282680906 1:STN:280: DyaF387jslyktw%3D%3D
5. DC Gajdusek 1977 Urgent opportunistic observations: the study of changing, transient and disappearing phenomena of medical interest in disrupted primitive human communities Ciba Foun Symp 49 69 94
6. DC Gajdusek AM Salazar 1982 Amyotrophic lateral sclerosis and parkinsonian syndromes in high incidence among the Auyu and Jakai people of West New Guinea Neurology 32 107 126 7198738 1:STN:280:DyaL387gsVelsQ%3D%3D
7. RM Garruto R Yanagihara 2009 Contributions of isolated Pacific populations to understanding neurodegenerative diseases Folia Neuropathol 47 149 170 19618338 1:CAS:528:DC%2BD1MXhtVajsLfO
8. RM Garruto 2006 A commentary on neuronal degeneration and cell death in Guam ALS and PD: an evolutionary process of understanding Curr Alzheimer Res 3 397 401 17017870 10.2174/156720506778249425 1:CAS:528:DC%2BD28Xos1Kjs7s%3D
9. TS Elizan A Hirano BM Abrams RL Needs C Van Nuis, et al. 1966 Amyotrophic lateral sclerosis, parkinsonism-dementia complex of Guam. Neurological reevaluation Arch Neurol 14 356 368 5906460 1:STN:280:DyaF28%2FpvVKltg%3D%3D
10. N Itoh K Ishiguro H Arai Y Kokubo R Sasaki, et al. 2003 Biochemical and ultrastructural study of neurofibrillary tangles in amyotrophic lateral sclerosis/parkinsonism-dementia complex in the Kii peninsula of Japan J Neuropathol Exp Neurol 62 791 798 12901704 1:CAS:528:DC%2BD3sXmsFCntb0%3D
11. A Hirano N Malamud LT Kurland 1961 Parkinsonism-dementia complex, an endemic disease on the island of Guam. II. Pathological features Brain 84 662 679 13907610 10.1093/brain/84.4.662 1:STN:280:DyaF38%2FkvV2qtw%3D%3D
12. S Matsumoto A Hirano S Goto 1990 Spinal cord neurofibrillary tangles of Guamanian amyotrophic lateral sclerosis, parkinsonism-dementia complex: an immunohistochemical study Neurology 40 975 979 2161095 1:STN:280: DyaK3c3msFGguw%3D%3D
13. Y Nakai 1969 Distribution of Alzheimer's neurofibrillary changes in amyotrophic lateral sclerosis Wakayama Igaku 20 355 370
14. SK Shankar R Yanagihara RM Garruto I Grundke-Iqbal KS Kosik, et al. 1989 Immunocytochemical characterization of neurofibrillary tangles in amyotrophic lateral sclerosis, parkinsonism-dementia on Guam Ann Neurol 25 146 151 2493213 10.1002/ana.410250207 1:STN:280:DyaL1M7kvFSgtw%3D%3D
15. RM Garruto R Yanagihara DC Gajdusek 1985 Disappearance of high-incidence amyotrophic lateral sclerosis and parkinsonism-dementia on Guam Neurology 35 193 198 3969206 1:STN:280:DyaL2M7htFGnsw%3D%3D
16. CC Plato RM Garruto D Galasko UK Craig M Plato, et al. 2003 Amyotrophic lateral sclerosis and parkinsonism-dementia complex of Guam: changing incidence rates during the past 60 years Am J Epidemiol 157 149 157 12522022 10.1093/aje/kwf175
17. Gajdusek DC (1984) Environmental factors provoking physiological changes which induce motor neuron disease and early neuronal aging in high incidence foci in the western Pacific. In: Rose FC (ed) Progress in motor neuron disease. Pitman, Sevenoaks, Kent, London, pp 44-69
18. RM Garruto Y Yase 1986 Neurodegenerative disorders of the western pacific: the search for mechanisms of pathogenesis Trends in Neurosci 9 368 374 10.1016/0166-2236(86)90116-5
19. PS Spencer VS Palmer AC Ludolph 2005 On the decline and etiology of high-incidence motor system disease in West Papua (southwest New Guinea) Mov Disord 20 S119 S126 16092101 10.1002/mds.20552
20. T Kihira S Yoshida K Murata H Ishiguti T Kondo, et al. 2010 Changes in the incidence and clinical features of ALS in the Koza, Kozagawa, and Kushimoto area of the Kii Peninsula-from the 1960s to the 2000s follow-up study Brain Nerve 62 72 80 20112794
21. S Kuzuhara Y Kokubo Y Narita R Sasaki 1998 Continuing high incidence rates and familial occurrence of amyotrophic lateral sclerosis and parkinsonism-dementia complex of the Kii Peninsula of Japan Neurology 50 A173
22. S Yoshida Y Uebayashi T Kihira J Kohmoto I Wakayama, et al. 1998 Epidemiology of motor neuron disease in the Kii Peninsula of Japan, 1989-1993: active or disappearing focus? J Neurol Sci 155 146 155 9562259 10.1016/S0022-510X(97)00300-6 1:STN:280:DyaK1c3itVOhug%3D%3D
23. JE Bailey-Wilson CC Plato RC Elston RM Garruto 1993 Potential role of an additive genetic component in the cause of amyotrophic lateral sclerosis, and parkinsonism-dementia in the Western Pacific Am J Med Genet 45 68 76 8418664 10.1002/ajmg.1320450118 1:STN:280:DyaK3s7hvVOjuw%3D%3D
24. RM Garruto 1991 Pacific paradigms of environmentally-induced neurological disorders: clinical, epidemiological and molecular perspectives Neurotoxicology 12 347 378 1745428 1:STN:280:DyaK38%2FotVWrsg%3D%3D
25. P Poorkaj D Tsuang E Wijsman E Steinbart RM Garruto, et al. 2001 TAU as a susceptibility gene for amyotrophic lateral sclerosis-parkinsonism dementia complex of Guam Arch Neurol 58 1871 1878 11708997 10.1001/archneur.58.11.1871 1:STN:280:DC%2BD3MnosFylsQ%3D%3D
26. W Sieh Y Choi NH Chapman UK Craig EJ Steinbart, et al. 2009 Identification of novel susceptibility loci for Guam neurodegenerative disease: challenges of genome scans in genetic isolates Hum Molec Genet 18 3725 3738 19567404 10.1093/hmg/ddp300 1:CAS:528:DC%2BD1MXhtFagsbbI
27. PD Sundar CE Yu W Sieh E Steinbart RM Garruto, et al. 2007 Two sites in the MAPT region confer genetic risk for Guam ALS/PDC and dementia Hum Molec Genet 16 295 306 17185385 10.1093/hmg/ddl463 1:CAS:528:DC%2BD2sXhtlKjtbs%3D
28. D Lynch C Wanglund R Spathis CW Chan DM Reiff, et al. 2008 The contribution of mitochondrial dysfunction to a gene-environmental model of Guamanian ALS and PD Mitochondrion 8 109 116 18054291 10.1016/j.mito.2007.09.002 1:CAS:528:DC%2BD1cXjtVWlsb0%3D
29. MT Lin MF Beal 2006 Mitochondrial dysfunction and oxidative stress in neurodegenerative diseases Nature 443 787 795 17051205 10.1038/nature05292 1:CAS:528:DC%2BD28XhtVyktbbO
30. N Howell JL Elson PF Chinnery DM Turnbull 2005 mtDNA mutations and common neurodegenerative disorders Trends Genet 21 583 586 16154228 10.1016/j.tig.2005.08.012 1:CAS:528:DC%2BD2MXhtFSisbzL
31. M Mancuso V Calsolaro D Orsucci G Siciliano L Murri 2009 Is there a primary role of the mitochondrial genome in Alzheimer's disease? J Bioenerg Biomembr 41 411 416 19798559 10.1007/s10863-009-9239-1 1:CAS:528: DC%2BD1MXhtlCnu7zN
32. K Gaweda-Walerych A Maruszak K Safranow M Bialecka G Klodowska-Duda, et al. 2008 Mitochondrial DNA haplogroups and subhaplogroups are associated with Parkinson's disease risk in a Polish PD cohort J Neural Transm 115 1521 1526 18810306 10.1007/s00702-008-0121-9 1:CAS:528:DC%2BD1cXhtlSgsbrN
33. D Ghezzi C Marelli A Achilli S Goldwurm G Pezzoli, et al. 2005 Mitochondrial DNA haplogroup K is associated with a lower risk of Parkinson's disease in Italians Eur J Hum Genet 13 748 752 15827561 10.1038/sj.ejhg.5201425 1:CAS:528:DC%2BD2MXktl2rt74%3D
34. A Pyle T Foltynie W Tiangyou C Lambert SM Keers, et al. 2005 Mitochondrial DNA haplogroup cluster UKJT reduces the risk of PD Ann Neurol 57 564 567 15786469 10.1002/ana.20417
35. JM van der Walt KK Nicodemus ER Martin WK Scott MA Nance, et al. 2003 Mitochondrial polymorphisms significantly reduce the risk of Parkinson Disease Am J Hum Genet 72 804 811 12618962 10.1086/373937
36. P Chagnon M Gee M Filion Y Robitaille M Belouchi, et al. 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 30 10377009 10.1002/(SICI)1096-8628(19990702)85:1<20::AID-AJMG6>3.0.CO;2-K 1:STN:280:DyaK1MzgtlGjsA%3D%3D
37. JL Elson GP Herrnstadt L Thal CM Morris JA Edwardson, et al. 2006 Does the mitochondrial genome play a role in the etiology of Alzheimer's disease? Hum Genet 119 241 254 16408223 10.1007/s00439-005-0123-8 1:CAS:528: DC%2BD28Xitl2murc%3D
38. A Santoro V Balbi E Balducci C Pirazzini F Rosini, et al. 2010 Evidence for sub-haplogroup h5 of mitochondrial DNA as a risk factor for late onset Alzheimer's disease PLoS ONE 5 e12027 10.1371/journal.pone.0012037
39. M Mancuso FL Conforti A Rocchi A Tessitore M Muglia, et al. 2004 Could mitochondrial haplogroups play a role in sporadic amyotrophic lateral sclerosis? Neurosci Lett 371 158 162 15519748 10.1016/j.neulet.2004.08.060 1:CAS:528:DC%2BD2cXptFOrsrs%3D
40. P Mehta GD Mellick DB Rowe GM Halliday MM Jones, et al. 2009 Mitochondrial DNA haplogroups J and K are not protective for Parkinson's disease in the Australian community Mov Disord 24 290 292 19086081 10.1002/mds.22389
41. DK Simon N Pankratz DK Kissell MW Pauciulo CA Halter, et al. 2010 Maternal inheritance and mitochondrial DNA variants in familial Parkinson's disease BMC Med Genet 11 53 20356410 10.1186/1471-2350-11-53
42. M Mancuso M Nardini D Micheli A Rocchi C Nesti, et al. 2007 Lack of association between mtDNA haplogroups and Alzheimer's disease in Tuscany Neurol Sci 28 142 147 17603766 10.1007/s10072-007-0807-z 1:STN:280: DC%2BD2szos1Ontw%3D%3D
43. A Maruszak JA Canter M Styczyńska C Zekanowski M Barcikowska 2009 Mitochondrial haplogroup H and Alzheimer's disease-is there a connection? Neurobiol Aging 30 1749 1755 18308428 10.1016/j.neurobiolaging.2008.01.004 1:CAS:528:DC%2BD1MXhtFGktL3P
44. A Bender KJ Krishnan CM Morris GA Taylor AK Reeve, et al. 2006 High levels of mitochondrial DNA deletions in substantia nigra neurons in aging and Parkinson disease Nat Genet 38 515 517 16604074 10.1038/ng1769 1:CAS:528:DC%2BD28XjvVGksbs%3D
45. Y Kraytsberg E Kudryavtseva AC McKee C Geula NW Kowall, et al. 2006 Mitochondrial DNA deletions are abundant and cause functional impairment in aged human substantia nigra neurons Nat Genet 38 518 520 16604072 10.1038/ng1778 1:CAS:528:DC%2BD28XjvVGktr0%3D
46. MT Lin DK Simon CH Ahn LM Kim MF Beal 2002 High aggregate burden of somatic mtDNA point mutations in aging and Alzheimer's disease brain Hum Mol Genet 11 133 145 11809722 10.1093/hmg/11.2.133 1:CAS:528:DC%2BD38XhtlKms74%3D
47. Y Wang Y Michikawa C Mallidis Y Bai L Woodhouse, et al. 2001 Muscle-specific mutations accumulate with aging in critical human mtDNA control sites for replication Proc Natl Acad Sci USA 98 4022 4027 11274426 10.1073/pnas.061013598 1:CAS:528:DC%2BD3MXis1Khtrw%3D
48. PE Coskun MF Beal DC Wallace 2004 Alzheimer's brains harbor somatic mtDNA control-region mutations that suppress mitochondrial transcription and replication Proc Natl Acad Sci USA 101 10726 10731 15247418 10.1073/pnas. 0403649101 1:CAS:528:DC%2BD2cXmtFWmt7w%3D
49. M Corral-Debrinski T Horton MT Lott JM Shoffner AC McKee, et al. 1994 Marked changes in mitochondrial DNA deletion levels in Alzheimer brains Genomics 23 471 476 7835898 10.1006/geno.1994.1525 1:CAS:528:DyaK2cXmslyjsL0%3D
50. T Ozawa M Tanaka S Ikebe K Ohno T Kondo, et al. 1990 Quantitative determination of deleted mitochondrial DNA relative to normal DNA in parkinsonian striatum by a kinetic PCR analysis Biochem Biophys Res Commun 172 483 489 2241948 10.1016/0006-291X(90)90698-M 1:CAS:528:DyaK3MXktlek
51. PF Chinnery GA Taylor N Howell DT Brown TJ Parsons, et al. 2001 Point mutations of the mtDNA control region in normal and neurodegenerative human brains Am J Hum Genet 68 529 532 11133363 10.1086/318204 1:CAS:528: DC%2BD3MXhtl2lsb0%3D
52. RM Andrews I Kubacka PF Chinnery RN Lightowlers DM Turnbull, et al. 1999 Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA Nat Genet 23 147 10508508 10.1038/13779 1:CAS:528: DyaK1MXmtlOhtLY%3D
53. CC Plato D Galasko RM Garruto M Plato A Gamst UK Craig JM Torres W Weiderholt 2002 ALS and PDC of Guam: forty year follow-up Neurology 58 765 773 11889241 1:STN:280:DC%2BD387lslGjug%3D%3D
54. M van Oven M Kayser 2009 Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation Hum Mutat 30 E386 E394 18853457 10.1002/humu.20921
55. P Librado J Rozas 2009 DnaSP v5: A software for comprehensive analysis of DNA polymorphism data Bioinformatics 25 1451 1452 19346325 10.1093/ bioinformatics/btp187 1:CAS:528:DC%2BD1MXmtFeqtr8%3D
56. MJ Rieder SL Taylor VO Tobe DA Nickerson 1998 Automating the identification of DNA variations using quality-based fluorescence re-sequencing: analysis of the human mitochondrial genome Nucleic Acids Res 26 967 973 9461455 10.1093/nar/26.4.967 1:CAS:528:DyaK1cXhvVWmsLk%3D
57. A Salas YG Yao V Macaulay A Vega A Carracedo HJ Bandelt 2005 A critical reassessment of the role of mitochondria in tumorigenesis PloS Med 2 e296 16187796 10.1371/journal.pmed.0020296
58. RL Parr J Maki B Reguly GD Dakubo A Aguirre R Wittock K Robinson JP Jakupciak RE Thayer 2006 The pseudo-mitochondrial genome influences mistakes in heteroplasmy interpretation BMC Genomics 7 185 16859552 10.1186/1471-2164-7-185
59. J Zhang TJ Montine MA Smith SL Siedlak G Gu, et al. 2002 The mitochondrial common deletion in Parkinson's disease and related movement disorders Parkinsonism Relat Disord 8 165 170 12039426 10.1016/S1353-8020(01) 00041-4 1:CAS:528:DC%2BD38XotVWrs7k%3D
60. L He PF Chinnery SE Durham EL Blakely TM Wardell, et al. 2002 Detection and quantification of mitochondrial DNA deletions in individual cells by real-time PCR Nucleic Acids Res 30 e68 12136116 10.1093/nar/gnf067
61. P Soares JA Trejaut JH Loo C Hill M Mormina, et al. 2008 Climate change and postglacial human dispersals in Southeast Asia Mol Biol Evol 25 1209 1218 18359946 10.1093/molbev/msn068 1:CAS:528:DC%2BD1cXntlWltLY%3D
62. KA Tabbada J Trejaut JH Loo YM Chen M Lin, et al. 2010 Philippine mitochondrial DNA diversity: a populated viaduct between Taiwan and Indonesia? Mol Biol Evol 27 21 31 19755666 10.1093/molbev/msp215 1:CAS:528: DC%2BD1MXhsFykt77J
63. JK Lum RL Cann 2000 mtDNA lineage analyses: origins and migrations of Micronesians and Polynesians Am J Phys Anthropol 113 151 168 11002202 10.1002/1096-8644(200010)113:2<151::AID-AJPA2>3.0.CO;2-N 1:STN:280:DC%2BD3M%2FnsFKltw%3D%3D
64. JS Friedlaender FR Friedlaender JA Hodgson M Stoltz G Koki, et al. 2007 Melanesian mtDNA complexity PLoS ONE 2 e248 17327912 10.1371/journal.pone. 0000248
65. C Hill P Soares M Mormina V Macaulay D Clarke, et al. 2007 A mitochondrial stratigraphy for island southeast Asia Am J Hum Genet 80 29 43 17160892 10.1086/510412 1:CAS:528:DC%2BD2sXms1CntQ%3D%3D
66. Spoehr A (1954) Saipan, the ethnology of a War-Devastated Island.Natural History Museum, Chicago
67. JH Underwood 1973 Population history of Guam: context of microevolution Micronesica 9 11 44
68. RT Yanagihara RM Garruto DC Gajdusek 1983 Epidemiological surveillance of amyotrophic lateral sclerosis and parkinsonism-dementia in the commonwealth of the Northern Mariana Islands Ann Neurol 13 79 86 6830169 10.1002/ana.410130117 1:STN:280:DyaL3s7ltFentQ%3D%3D
69. Carano P, Sanchez P (1964) A complete history of Guam. Charles Tuttle Company, Rutland, Vermont
70. Rogers RF (1995) Destiny's Landfall: a history of Guam. University of Hawaii Press, Honolulu, Hawaii
71. CC Plato M Cruz 1967 Blood group and haptoglobin frequencies of the Chamorros of Guam Am J Hum Genet 19 722 731 6075367 1:STN:280: DyaF1c%2Fps1eltA%3D%3D
72. JA Trejaut T Kivisild JH Loo CL Lee CL He, et al. 2005 Traces of archaic mitochondrial lineages persist in Austronesian-speaking Formosan populations PLoS Biol 3 e247 15984912 10.1371/journal.pbio.0030247
73. E Mkaouar-Rebai W Chaari S Younes R Bousoffara MT Sfar F Fakhfakh 2009 Maternally inherited Leigh syndrome: T8993G mutation in a Tunisian family Pediatric Neurol 40 437 442 10.1016/j.pediatrneurol.2009.01.004
74. T Kawarai H Kawakami K Kozuka Y Izumi Z Matsuyama C Watanabe T Kohriyama S Nakamura 1997 A new mitochondrial DNA mutation associated with mitochondrial myopathy: tRNA (Leu) (UUR) 3254C-to-G Neurology 49 598 600 9270605 1:CAS:528:DyaK2sXmtVGitr4%3D
75. AK Reeve KJ Krishnan JL Elson CM Morris A Bender, et al. 2008 Nature of mitochondrial DNA deletions in substantia nigra neurons Am J Hum Genet 82 228 235 18179904 10.1016/j.ajhg.2007.09.018 1:CAS:528:DC%2BD1cXhsFOksbw%3D.