Mitochondrial DNA sequence analysis of four Alzheimer's and Parkinson's disease patients

American Journal of Medical Genetics

Volumn 61, Issue 3, 1996, Pages 283-289

  Brown, Michael D ^a   Shoffher, John M ^a   Kim, Yoon L ^a   Jun, Albert S ^a   Graham, Brett H ^a   Cabell, Margaret F ^a   Gurley, Daniel S ^a   Wallace, Douglas C ^a  

^a EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Alzheimer's disease; mitochondrial DNA sequence; Parkinson's disease; synergistic genetic interactions

Indexed keywords

GLYCINE TRANSFER RNA; METHIONINE; MITOCHONDRIAL DNA; RIBOSOME RNA; VALINE;

ALZHEIMER DISEASE; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CONTROLLED STUDY; DNA SEQUENCE; HEREDITARY OPTIC ATROPHY; HUMAN; HUMAN TISSUE; MUTATION; NEUROPATHOLOGY; NUCLEIC ACID BASE SUBSTITUTION; PARKINSON DISEASE; PRIORITY JOURNAL;

ALZHEIMER DISEASE; AMINO ACID SEQUENCE; DNA, MITOCHONDRIAL; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION; PARKINSON DISEASE; SEQUENCE ANALYSIS, DNA;

EID: 0030066069     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19960122)61:3<283::AID-AJMG15>3.0.CO;2-P     Document Type: Article

References (68)

1. Anderson S, Bankier A, Barrell BG, deBruijin MHL, Coulson AR, Drouin J, Eperon JC, Nierlich DP, Rose BA, Sanger F, Schreier PH, Smith AJH, Staden R, Young IG (1981): Sequence and organization of the human mitochondrial genome. Nature 290: 457-465.
2. Ballinger SW, Schurr TG, Torroni A, Gan YY, Hodge JA, Hassan K, Chen KH, Wallace DC (1992): Southeast Asian mitochondrial DNA analysis reveals genetic continuity of ancient mongoloid migrations. Genetics 130:139-152.
3. Benecke R, Stumper P, Weiss H (1993): Electron transfer complexes I and IV of platelets are abnormal in Parkinson's disease but normal in Parkinson-plus syndromes. Brain 116:1451-1463.
4. Bindoff L, Birch-Machin MA, Cartlidge NEF, Parker WD Jr, Turnbull DM (1991): Respiratory chain abnormalities in skeletal muscle from patients with Parkinson's disease. J Neurol Sci 104:203-208.
5. Blin O, Desnuelle C, Rascol O, Borg M, Peyro Saint Paul H, Azulay JP, Bille F, Figarella D, Coulom F, Pellissier JF, Montastruc JL, Chatel M, Serratrice G (1994): Mitochondrial respiratory failure in skeletal muscle from patients with Parkinson's disease and multiple system atrophy. J Neurol Sci 125:95-101.
6. Boffoli D, Scacco SC, Vergari R, Solarino G, Santacroce G, Papa S (1994): Decline with age of the respiratory chain activity in human skeletal muscle. Biochem Biophys Acta 1226:73-82.
7. Bowling AC, Mutisya EM, Walker LC, Price DL, Cork LC, Beal MF (1993): Age-dependent impairment of mitochondrial function in primate brain. J Neurochem 60:1964-1967.
8. Brown MD, Voljayec AS, Lott MT, MacDonald I, Wallace DC (1992a): Leber's hereditary optic neuropathy: a model for mitochondrial neurodegenerative disease. FASEB J 6:2791-2799.
9. Brown MD, Voljavec AS, Lott MT, Torroni A, Yang C, Wallace DC (1992b): Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy. Genetics 130: 163-173.
10. Byrne EJ, Lennox G, Lowe J, Godwin-Austin R (1989): Diffuse Lewy body disease: Clinical features in 15 cases. J Neurol Neurosurg Psychiatry 52:709-717.
11. Cardellach F, Marti MJ, Fernandez-Sola J, Marin C, Hoek JB, Tolosa E, Urbano-Marquez A (1993): Mitochondrial respiratory chain activity in skeletal muscle from patients with Parkinson's disease. Neurology 43:2258-2262.
12. Chui HC, Teng EL, Henderson VW, Moy AC (1985): Clinical subtypes of dementia of the Alzheimer type. Neurology 35:1544-1550.
13. Cooper JM, Mann VM, Schapira AHV (1992): Analyses of mitochondrial respiratory chain function and mitochondrial DNA deletion in human skeletal muscle: Effect of aging. J Neurol Sci 113:91-98.
14. Corral-Debrinski M, Stepien G, Shoffner JM, Lott MT, Kanter K, Wallace DC (1991): Hypoxia is associated with mitochondrial DNA damage and gene induction. Implications for cardiac disease. JAMA 266:1812-1816.
15. Grain BJ, Mirra SS (1990): Degenerative diseases. Curr Opinion Neurol Neurosurg 921-925.
16. Dickson DW, Crystal H, Mattiace LA, Kreess Y, Schwagrl A, Dsiezak-Reding H, Davies P, Yuen S-HC (1989): Diffuse Lewy body disease: Light and electron microscopic immunocytochemistry of senile plaques. Acta Neuropathol 78:572-584.
17. Ditter SM, Mirra SS (1987): Neuropathologic and clinical features of Parkinson's disease in Alzheimer's disease patients. Neurology 37:754-760.
18. Golbe LI (1990): The genetics of Parkinson's disease: A reconsideration. Neurology 40(suppl 3):7-14.
19. Hansen L, Salmon D, Galasko D, Masliah E, Katzman R, DeTeresa R, Thal L, Pay MM, Hofstetter R, Klauber M, Rice V, Butters N, Alford M (1990): The Lewy body variant of Alzheimer's disease: A clinical and pathologic entity. Neurology 40:1-8.
20. Hansen LA, Masliah E, Terry RD, Mirra SS (1989): A neuropathological subset of Alzheimer's disease with concomitant Lewy body disease and spongiform change. Acta Neuropathol 78:194-201.
21. Hattori N, Tanaka M, Ozawa T, Mizuno Y (1991): Immunohistochemical studies on complexes I, II, III, and IV of mitochondria in Parkinson's disease. Ann Neurol 30:563-571.
22. Howell N, Bindoff LA, McCullough DA, Kubacka I, Poulton J, Mackey D, Taylor L, Turnbull DM (1991a): Leber hereditary optic neuropathy: Identification of the same mitochondrial ND1 mutation in six pedigrees. Am J Hum Genet 49:939-950.
23. Howell N, Kubacka I, Halvorson S, Mackey D (1993): Leber's hereditary optic neuropathy: The etiological role of a mutation in the mitochondrial cytochrome b gene. Genetics 133:133-136.
24. Howell N, Kubacka I, Xu M, McCullough DA (1991b): Leber's hereditary optic neuropathy: Involvement of the mitochondrial ND1 gene and evidence for an intragenic suppressor mutation. Am J Hum Genet 48:935-942.
25. Hutchin T, Cortopassi G (1995): A mitochondrial DNA clone is associated with increased risk for Alzheimer disease. Proc Natl Acad Sci USA 92:6892-6895.
26. Johns DR, Berman J (1991): Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy. Biochem Biophys Res Commun 174:1324-1330.
27. Johns DR, Neufeld MJ (1991): Cytochrome b mutations in Leber's hereditary optic neuropathy. Biochem Biophys Res Commun 181:1358-1364.
28. Johns DR, Neufeld MJ, Park RD (1992): An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy. Biochem Biophys Res Commun 187:1551-1557.
29. Johnson WB (1991): Genetic susceptibility in Parkinson's disease. Neurology 41:82-87.
30. Leu(UUR) gene in MELAS (mitochondrial myopathy, encephalomyopathy, lactic acidosis, and stroke-like episodes). Biochem Biophys Res Commun 173:816-822.
31. Krige D, Carroll MT, Cooper JM, Marsden D, Shapira AHV (1992): Platelet mitochondrial function in Parkinson's disease. Ann Neurol 32:782-788.
32. Letrit P, Noer AS, Jean-Francois MJ, Kapsa R, Dennett X, Thyagarajan D, Lethkan K, Byrne E, Marzuki S (1992): A new disease-related mutation for mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome affects the ND4 subunit of respiratory complex I. Am J Hum Genet 51:457-468.
33. Mackey D, Howell N (1992): A variant of Leber hereditary optic neuropathy characterized by recovery of vision and by an unusual mitochondrial genetic etiology. Am J Hum Genet 51:1218-1228.
34. Mann VM, Cooper JM, Krige D, Daniel SE, Shapira AHV, Marsden CD (1992): Brain, skeletal muscle, and platelet mitochondrial function in Parkinson's disease. Brain 115:333-342.
35. Marzuki S, Noer AS, Letrit P, Thyagarajan D, Kapsa R, Utthanaphol P, Byrne E (1991): Normal variants of human mitochondrial DNA and translation products: The building of a reference data base. Hum Genet 88:139-145.
36. Mayeux R, Stern Y, Spanton S (1985): Heterogeneity in dementia of the Alzheimer type: Evidence of subgroups. Neurology 35: 435-461.
37. Mizuno Y, Ohta S, Tanaka M, Takamiya S, Suzuki K, Sato T, Oya H, Ozawa T, Kagawa Y (1989): Deficiencies in complex I subunits of the respiratory chain in Parkinson's disease. Biochem Biophys Res Commun 163:1450-1455.
38. Mullan M, Houlden H, Windelspecht M, Fidani L, Lombardi C, Diaz P, Rossor M, Crook R, Hardy J, Duff K, Crawford F (1992): A locus for familial early-onset Alzheimer's disease on the long arm of chromosome 14, proximal to the 1-antichymotrypsin gene. Nature Genet 2:340-342.
39. Nakagawa-Hattori Y, Yoshino H, Kondo T, Mizuno Y, Horai S (1992): Is Parkinson's disease a mitochondrial disorder? J Neurol Sci 107: 29-33.
40. Obayashi T, Hattori K, Sugiyama S, Tanaka M, Tanaka T, Itoyama S, Deguchi H, Kawamura K, Koga Y, Toshima H, Takeda N, Nagano M, Ito T, Ozawa T (1992): Point mutations in mitochondrial DNA in patients with hypertrophic cardiomyopathy. Am Heart J 124: 1263-1269.
41. Ozawa T, Tanaka M, Ino H, Ohno K, Sano T, Wada Y, Yoneda M, Tanno Y, Miyatake T, Tanaka T, Itoyama S, Ikebe S, Hattori N, Mizuno Y (1991a): Distinct clustering of point mutations in mitochondrial DNA among patients with mitochondrial encephalomyopathies and with Parkinson's disease. Biochem Biophys Res Commun 176:938-946.
42. Ozawa T, Tanaka M, Sugiyama S, Ino H, Ohno K, Hattori K, Ohbayashi T, Ito T, Deguchi H, Kawamura K, Nakane Y, Hashiba K (1991b): Patients with idiopathic cardiomyopathy belong to the same mitochondrial DNA gene family of Parkinson's disease and mitochondrial encephalomyopathy. Biochem Biophys Res Commun 177:518-525.
43. Parker WD, Boyson SJ, Parks JK (1989): Abnormalities of the electron transport chain in idiopathic Parkinson's disease. Ann Neurol 26:719-723.
44. Parker WD, Filley CM, Parks JK (1990): Cytochrome c oxidase deficiency in Alzheimer's disease. Neurology 40:1302-1303.
45. Parker WD, Mahr NJ, Filley CM, Parks JK, Hughes D, Young DA, Cullum CM (1994a): Reduced platelet cytochrome c oxidase activity in Alzheimer's disease. Neurology 44:1086-1089.
46. Parker WD, Parks JK, Filley CM, Kleinschmidt-DeMasters BK (1994b): Electron transport chain defects in Alzheimer's disease brains. Neurology 44:1909-1096.
47. Perry RH, Irving D, Blessed Fairbairn A, Perry EK (1990): Senile dementia of the Lewy body type: A clinically and neuropathologically distinct form of Lewy body dementia in the elderly. J Neurol Sci 95:119-139.
48. Peterson C, Goldman JE (1986): Alterations in calcium content and biochemical processes in cultured skin fibroblasts from aged and Alzheimer's donors. Proc Natl Acad Sci USA 83:2758-2762.
49. Prezant TR, Agapian JV, Bohlman MCB, Bu X, Oztas S, Qi W-Q, Arnos KS, Cortopassi GA, Jaber L, Rotter JI, Shohat M, Fischel-Ghodsian N (1993): Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness. Nature Genet 4:289-294.
50. Saraiva AA, Borges MM, Madeira MD, Tavares MA, Paula-Barbosa MM (1985): Mitochondrial abnormalities in cortical dendrites from patients with Alzheimer's disease. J Submicrosc Cytol 17:459-464.
51. Schapira AHV (1994): Evidence for mitochondrial dysfunction in Parkinson's disease - A critical appraisal. Mov Disord 9:125-138.
52. Schapira AH, Cooper JM, Dexter D, Clark JB, Jenner P, Marsden CD (1990): Mitochondrial complex I deficiency in Parkinson's disease. J Neurochem 54:823-827.
53. Schapira AH, Cooper JM, Dexter D, Jenner P, Clark JB, Marsden CD (1989): Mitochondrial complex I deficiency in Parkinson's disease. Lancet 1:1269.
54. Shoffner JM, Brown MD, Torroni A, Lott MT, Cabell MF, Mirra SS, Beal MF, Yang CC, Gearing M, Salvo R, Watts RL, Juncos JL, Hansen LA, Crain BJ, Fayad M, Reckord CL, Wallace DC (1993): Mitochondrial DNA variants observed in Alzheimer disease and Parkinson disease patients. Genomics 17:171-184.
55. Shoffner JM, Lott MT, Lezza AM, Seibel P, Ballinger SW, Wallace DC (1990): Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation. Cell 61:931-937.
56. Shoffner JM, Watts RL, Juncos JL, Torroni A, Wallace DC (1919): Mitochondrial oxidative phosphorylation defects in Parkinson Disease. Ann Neurol 30:332-339.
57. St. George-Hyslop P, Haines J, Rogaev E, Mortilla M, Vala G, Pericak-Vance M, Foncin J-F, Montesi M, Bruni A, Sorbi S, Rainero I, Pinessi L, Pollen D, Polinski R, Nee L, Kennedy J, Macciardi F, Rogaeva E, Liang Y, Alexandrova N, Lukiw W, Schlumpf K, Tanzi R, Tsuda T, Farrer L, Cantu J-M, Duara R, Amaducci L, Bergamini L, Gusella J, Roses A, Crapper-McLachlan D (1992): Genetic evidence for a novel familial Alzheimer's disease locus on chromosome 14. Nature Genet 2:330-334.
58. Strittmatter WJ, Saunders A, Schmechel D, Pericak-Vance M, Enghild J, Salvesen GS, Roses AD (1993): Apolipoprotein E: High-avidity binding to β-amyloid and increased frequency of type 4 allele in late-onset familial Alzheimer disease. Proc Natl Acad Sci USA 90:1977-1981.
59. Torroni A, Miller JA, Moore LG, Zamudio S, Zhuang J, Droma T, Wallace DC (1994): Mitochondrial DNA analysis in Tibet. Implications for the origin of the Tibetan population and its adaptation to high altitude. Am J Phys Anthropol 93:189-199.
60. Torroni A, Schurr T, Yang C-C, Szathmary EJE, Williams RC, Schanfield MS, Troup GA, Knowler WC, Lawrence DN, Weiss KM, Wallace DC (1992): Native American mitochondrial DNA analysis indicates that the Amerind and the Nadene populations were founded by two independent migrations. Genetics 130:153-162.
61. Torroni A, Schurr TG, Cabell MF, Brown MD, Neel JV, Larsen M, Smith DG, Vullo CM, Wallace DC (1993a): Asian affinities and continental radiation of the four founding Native American mitochondrial DNAs. Am J Hum Genet 53:563-590.
62. Torroni A, Sukernik RI, Schurr TG, Starikovskaya YB, Cabell MF, Crawford MH, Comuzzie AE, Wallace DC (1993b): Mitochondrial DNA variation of Aborginal Siberians reveals distinct genetic affinities with Native Americans. Am J Hum Genet 53:591-608.
63. Trounce I, Byrne E, Marzuki S (1989): Decline in skeletal muscle mitochondrial respiratory chain function: Possible factor in aging. Lancet 1:637-639.
64. Van Broeckhoven C, Backhovens H, Cruts M, De Winter G, Bruyland M, Cras P, Martin J-J (1992): Mapping of a gene predisposing to early-onset Alzheimer's disease to chromosome 14q24.3. Nature Genet 2:335-339.
65. Wallace DC (1992a): Diseases of the mitochondrial DNA. Annu Rev Biochem 61:1175-1212.
66. Wallace DC (1992b): Mitochondrial genetics: A paradigm for aging and degenerative diseases? Science 256:628-632.
67. Wallace DC, Singh G, Lott MT, Hodge JA, Schurr TG, Lezza AMS, Elsas LJ, Nikoskelainen EK (1988): Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science 289 242:1427-1430.
68. Yoshino H, Nakagawa-Hattori Y, Knodo T, Mizuno Y (1991): Mitochondrial complex I and II activities of lymphocytes and platelets in Parkinson's disease. J Neurol Transm 4:27-34.