TOMM40 rs10524523 polymorphism's role in late-onset Alzheimer's disease and in longevity

Journal of Alzheimer's Disease

Volumn 28, Issue 2, 2012, Pages 309-322

  Maruszak, Aleksandra ^a   Pepłońska, Beata ^a   Safranow, Krzysztof ^b   Chodakowska Zebrowska, Małgorzata ^c   Barcikowska, Maria ^a   Zekanowski, Cezary ^a  

^a MOSSAKOWSKI MEDICAL RESEARCH CENTRE   (Poland)

^b POMERANIAN MEDICAL UNIVERSITY   (Poland)

^c Neurology Clinic   (Poland)

Author keywords

Alzheimer's disease; APOE; association study; haplotype; late onset Alzheimer's disease; longevity; TOMM40

Indexed keywords

APOLIPOPROTEIN E; MEMBRANE PROTEIN; TRANSLOCASE OF OUTER MITOCHONDRIAL MEMBRANE 40; UNCLASSIFIED DRUG;

AGED; ALLELE; ALZHEIMER DISEASE; ARTICLE; CONTROLLED STUDY; DNA POLYMORPHISM; GENE FREQUENCY; GENETIC RISK; GENOTYPE; HAPLOTYPE; HUMAN; LATE ONSET ALZHEIMER DISEASE; LONGEVITY; MAJOR CLINICAL STUDY; ONSET AGE; PRIORITY JOURNAL;

EID: 84857025874     PISSN: 13872877     EISSN: 18758908     Source Type: Journal    
DOI: 10.3233/JAD-2011-110743     Document Type: Article

References (26)

1. Gatz M, Reynolds CA, Fratiglioni L, Johansson B, Mortimer JA, Berg S, Fiske A, Pedersen NL (2006) Role of genes and environments for explaining Alzheimer disease. Arch Gen Psychiatry 63, 168-174. (Pubitemid 43213878)
2. Mahley RW, Weisgraber KH, HuangY (2006) Apolipoprotein E4: A causative factor and therapeutic target in neuropathol-ogy, including Alzheimer's disease. Proc Natl Acad Sci U S A 103, 5644-5651.
3. Corder EH, Saunders AM, Strittmatter WJ, Schmechel DE, Gaskell PC, Small GW, Roses AD, Haines JL, Pericak-Vance MA (1993) Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late onset families. Science 261, 921-923. (Pubitemid 23275809)
4. Roses AD, Lutz MW, Amrine-Madsen H, Saunders AM, Crenshaw DG, Sundseth SS, Huentelman MJ, Welsh-Bohmer KA, Reiman EM (2010) A TOMM40 variable-length polymorphism predicts the age of late-onset Alzheimer's disease. Pharmacogenomics J 10, 375-384.
5. Hansson Petersen CA, Alikhani N, Behbahani H, Wiehager B, Pavlov PF, Alafuzoff I, Leinonen V, Ito A, Winblad B, Glaser E, Ankarcrona M (2008) The amyloid beta-peptide is imported into mitochondria via the TOM import machinery and localized to mitochondrial cristae. Proc Natl Acad Sci U S A 105, 13145-13150.
6. Chang S, ran Ma T, Miranda RD, Balestra ME, Mahley RW, Huang Y (2005) Lipid- and receptor-binding regions of apolipoprotein E4fragments actinconcerttocause mitochon-drial dysfunction and neurotoxicity. Proc Natl Acad Sci U S A 102, 18694-18699. (Pubitemid 43011288)
7. Nakamura T, Watanabe A, Fujino T, Hosono T, Michikawa M (2009) ApolipoproteinE4 (1-272) fragmentis associated with mitochondrial proteins and affects mitochondrial function in neuronal cells. Mol Neurodegener 4, 35.
8. Devi L, Prabhu BM, Galati DF, Avadhani NG, Anan-datheerthavarada HK (2006) Accumulation of amyloid precursor protein in the mitochondrial import channels of human Alzheimer's disease brainisassociated withmitochon-drial dysfunction. J Neurosci 26, 9057-9068. (Pubitemid 44319397)
9. Lutz MW, Crenshaw DG, Saunders AM, Roses AD (2010) Genetic variation at a single locus and age of onset for Alzheimer's disease. Alzheimers Dement 6, 125-131.
10. McKhann G, Drachman D, Folstein M, Katzman R, Price D, Stadlan EM (1984) Clinical diagnosis of Alzheimer's disease: Report ofthe NINCDS-ADRDA Work Group under the auspicies of Department of Health Services Task Force on Alzheimer's disease. Neurology 34, 939-944. (Pubitemid 14076461)
11. Mossakowska M, Barcikowska M, Broczek K, Grodzicki T, Klich-Raczka A, Kupisz-Urbanska M, Podsiadly-Marczykowska T, Sikora E, Szybinska A, Wieczorowska-Tobis K, Zyczkowska J, Kuznicki J (2008) Polish Centenarians Programme. Multidisciplinarystudies of suc-cessfulageing: Aims, methods, and preliminaryresults. Exp Gerontol 43, 238-244.
12. Maruszak A, Canter JA, Styczynska M, Zekanowski C, Barcikowska M (2009) Mitochondrial haplogroup H and Alzheimer's disease-is there a connection? Neurobiol Aging 30, 1749-1755.
13. Guo SW, Thompson EA (1992) Performing the exact test of hardy-weinberg proportion for multiple alleles. Biometrics 48, 361-372.
14. Cruchaga C, Nowotny P, Kauwe JS, Ridge PG, Mayo K, Bertelsen S, Hinrichs A, Fagan AM, Holtzman DM, Morris JC, Goate AM, (2011) for the Alzheimer's Disease Neu-roimaging Initiative Association and expression analyses with single-nucleotide polymorphisms in TOMM40 in Alzheimer disease. Arch Neurol 68, 1013-1019.
15. Chu SH, Roeder K, Ferrell RE, Devlin B, Demichele-Sweet MA, Kamboh MI, Lopez OL, Sweet RA (2011) TOMM40 poly-T repeat lengths, age of onset and psychosis risk in Alzheimer disease. Neurobiol Aging 32, 2328.
16. Lescai F, Chiamenti AM, Codemo A, Pirazzini C, D'Agostino G, Ruaro C, Ghidoni R, Benussi L, Galimberti D, Esposito F, Marchegiani F, Cardelli M, Olivieri F, Nacmias B, Sorbi S, Tagliavini F, Albani D, Boneschi FM, Binetti G, Santoro A, Forloni G, Scarpini E, Crepaldi G, Gabelli C, Franceschi C (2011) An APOE haplotype associated with decreased e4 Expression increases the risk of late onset Alzheimer's disease. J Alzheimers Dis 24, 235-245.
17. Deelen J, Beekman M, Uh HW, Helmer Q, Kuningas M, Christiansen L, Kremer D, van de Breggen R, Suchiman HE, Lakenberg N, van den Akker EB, Passtoors WM, Tiemeier H, van Heemst D, de Craen AJ, Rivadeneira F, de Geus EJ, Perola M, van der Ouderaa FJ, Gunn DA, Boomsma DI, Uitterlinden AG, Christensen K, van Duijn CM, Heijmans BT, Houwing-Duistermaat JJ, Westendorp RG, Slagboom PE (2011) Genome-wide association study identifies a single major locus contributing to survival into old age; the APOE locus revisited. Aging Cell 10, 686-698.
18. Christensen K, Johnson TE, Vaupel JW (2006) The quest for genetic determinants of human longevity: Challenges and insights. Nat Rev Genet 7, 436-448. (Pubitemid 43780487)
19. Schiepers OJ, Harris SE, Gow AJ, Pattie A, Brett CE, Starr JM, Deary IJ (2011) APOE E4 status predicts age-related cognitive decline in the ninth decade: Longitudinal follow-up of the Lothian Birth Cohort 1921. Mol Psychiatry, doi:10.1038/mp.2010.137.
20. Prohovnik I, Perl DP, Davis KL, Libow L, Lesser G, Haroutu-nian V (2006) Dissociation of neuropathology from severity of dementia in late-onset Alzheimer disease. Neurology 66, 49-55. (Pubitemid 43739591)
21. Pomara N, Bruno D, Nierenberg JJ, Sidtis JJ, Martiniuk FT, Mehta PD, Zetterberg H, Blennow K (2011) TOMM40 poly-T Variants and cerebrospinal fluid amyloid beta levels in the elderly. Neurochem Res 36, 1124-1128.
22. Bekris LM, Galloway NM, Montine TJ, Schellenberg GD, Yu CE (2010) APOE mRNA and protein expression in postmortem brain are modulated by an extended haplotype structure. Am J Med Genet B Neuropsychiatr Genet 153B 409-417.
23. Han MR, Schellenberg GD, Wang LS (2010) Alzheimer's Disease Neuroimaging Initiative. Genome-wide association reveals genetic effects on human Aß42 and tau protein levels in cerebrospinal fluids: A case control study. BMC Neuro 10, 90.
24. Kim S, Swaminathan S, Shen L, Risacher SL, Nho K, Foroud T, Shaw LM, Trojanowski JQ, Potkin SG, Huentelman MJ, Craig DW, DeChairo BM, Aisen PS, Petersen RC, Weiner MW, Saykin AJ, (2011) Alzheimer's Disease Neuroimaging Initiative Genome-wide association study of CSF biomarkers Abeta1-42, t-tau, and p-tau181p in the ADNI cohort. Neurology 76, 69-79.
25. Johnson SC, La Rue A, Hermann BP, Xu G, Koscik RL, Jon-aitis EM, Bendlin BB, Hogan KJ, Roses AD, Saunders AM, Lutz MW, Asthana S, Green RC, Sager MA (2011) The effect of TOMM40 poly-T length on gray matter volume and cognition in middle-aged persons with APOE e3/e3 genotype. Alzheimers Dement 7, 456-465.
26. Pomara N, Bruno D, Sidtis JJ, Lutz MW, Greenblatt DJ, Saunders AM, Roses AD (2011) Translocase of Outer Mitochondrial Membrane 40 Homolog (TOMM40) Poly-T length modulates lorazepam-related cognitive toxicity in healthy APOE e4-negative elderly. J Clin Psychopharmacol 31, 544-546.