Understanding the genetics of APOE and TOMM40 and role of mitochondrial structure and function in clinical pharmacology of Alzheimer's disease

Alzheimer's and Dementia

Volumn 12, Issue 6, 2016, Pages 687-694

  Roses, Allen ^a,b   Sundseth, Scott ^a,b   Saunders, Ann ^a,b   Gottschalk, William ^a,b   Burns, Dan ^a,b   Lutz, Michael ^a,b  

^a DUKE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b Semillon Pharmaceuticals   (United States)

Author keywords

Alzheimer's disease short structural variations SSVs ; APOE; Genetics; Mitochondria; Phylogenetic mapping; Sequencing; TOMM40

Indexed keywords

APOLIPOPROTEIN E; CARRIER PROTEIN; TOMM40 PROTEIN, HUMAN;

ACCURACY; ALZHEIMER DISEASE; CLINICAL PHARMACOLOGY; DRUG INDUSTRY; GENE; GENE LINKAGE DISEQUILIBRIUM; GENE LOCUS; GENOME-WIDE ASSOCIATION STUDY; GENOTYPING TECHNIQUE; HUMAN; MITOCHONDRIAL GENETICS; ONSET AGE; PRIORITY JOURNAL; REVIEW; SINGLE NUCLEOTIDE POLYMORPHISM; TOMM40 GENE; GENETIC PREDISPOSITION; GENETICS; MITOCHONDRION; PATHOLOGY;

ALZHEIMER DISEASE; APOLIPOPROTEINS E; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; HUMANS; LINKAGE DISEQUILIBRIUM; MEMBRANE TRANSPORT PROTEINS; MITOCHONDRIA; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 84973547727     PISSN: 15525260     EISSN: 15525279     Source Type: Journal    
DOI: 10.1016/j.jalz.2016.03.015     Document Type: Article

References (48)

1. A.M. Saunders, and A.D. Roses Apolipoprotein e4 allele frequency, ischemic cerebrovascular disease, and Alzheimer's disease Stroke 24 1993 1416 1417
2. E. Corder, A. Saunders, W. Strittmatter, D. Schmechel, P. Gaskell, G. Small, and et al. Gene dose of apolipoprotein e type 4 allele and the risk of alzheimer's disease in late onset families Science 261 1993 921 923
3. E. Marshall Snipping away at genome patenting Science 277 1997 1752 1753
4. A.L. Holden The snp consortium: Summary of a private consortium effort to develop an applied map of the human genome Biotechniques Suppl 2002 22-24, 26
5. E. Lai, J. Riley, I. Purvis, and A. Roses A 4-mb high-density single nucleotide polymorphism-based map around human apoe Genomics 54 1998 31 38
6. E.R. Martin, E.H. Lai, J.R. Gilbert, A.R. Rogala, A.J. Afshari, J. Riley, and et al. SNPing away at complex diseases: Analysis of single-nucleotide polymorphisms around apoe in Alzheimer disease Am J Hum Genet 67 2000 383 394
7. E.R. Martin, J.R. Gilbert, E.H. Lai, J. Riley, A.R. Rogala, B.D. Slotterbeck, and et al. Analysis of association at single nucleotide polymorphisms in the apoe region Genomics 63 2000 7 12
8. Pacific biosciences names david botstein, ph.D. To its board of directors 2012 Menlo Park, CA Available at: http://investor.pacificbiosciences.com/releasedetail.cfm?releaseid=694085 Accessed May 7, 2016
9. A.D. Roses, M.W. Lutz, H. Amrine-Madsen, A.M. Saunders, D.G. Crenshaw, S.S. Sundseth, and et al. A Tomm40 variable-length polymorphism predicts the age of late-onset Alzheimer's disease Pharmacogenomics J 10 2010 375 384
10. A.D. Roses, M.W. Lutz, A.M. Saunders, D. Goldgaber, R. Saul, S.S. Sundseth, and et al. African-american tomm40'523-apoe haplotypes are admixture of west african and caucasian alleles Alzheimers Dement 10 2014 592 601
11. C. Linnertz, A.M. Saunders, M.W. Lutz, D.M. Crenshaw, I. Grossman, D.K. Burns, and et al. Characterization of the poly-t variant in the tomm40 gene in diverse populations PLoS One 7 2012 e30994
12. D.G. Crenshaw, W.K. Gottschalk, M.W. Lutz, I. Grossman, A.M. Saunders, J.R. Burke, and et al. Using genetics to enable studies on the prevention of alzheimer's disease Clin Pharmacol Ther 93 2013 177 185
13. M.W. Lutz, S.S. Sundseth, D.K. Burns, A.M. Saunders, K.M. Hayden, J.R. Burke, and et al. A genetics-based biomarker risk algorithm for predicting risk of alzheimer's disease Alzheimers Dement (N Y) 2 2016 30 44
14. J. Marx New alzheimer's theory stirs controversy Science 262 1993 1210-1211.5
15. J.L. Cummings, H.V. Vinters, G.M. Cole, and Z.S. Khachaturian Alzheimer's disease: Etiologies, pathophysiology, cognitive reserve, and treatment opportunities Neurology 51 1 Suppl 1 1998 S2 S17 discussion S65-17
16. G.D. Schellenberg, and T.J. Montine The genetics and neuropathology of Alzheimer's disease Acta Neuropathol 124 2012 305 323
17. G.D. Schellenberg, I. D'Souza, and P. Poorkaj The genetics of Alzheimer's disease Curr Psychiatry Rep 2 2000 158 164
18. R.J. Guerreiro, D.R. Gustafson, and J. Hardy The genetic architecture of Alzheimer's disease: Beyond app, psens and apoe Neurobiol Aging 33 2012 437 456
19. S.G. Post, P.J. Whitehouse, R.H. Binstock, T.D. Bird, S.K. Eckert, L.A. Farrer, and et al. The clinical introduction of genetic testing for Alzheimer disease. An ethical perspective JAMA 277 1997 832 836
20. R.W. Mahley, and Y. Huang Apolipoprotein e sets the stage: Response to injury triggers neuropathology Neuron 76 2012 871 885
21. H. Li, S. Wetten, L. Li, P.L. St Jean, R. Upmanyu, L. Surh, and et al. Candidate single-nucleotide polymorphisms from a genome-wide association study of Alzheimer disease Arch Neurol 65 2008 45 53
22. R.J. Guerreiro, and J. Hardy Tomm40 association with alzheimer disease: Tales of apoe and linkage disequilibrium Arch Neurol 69 2012 1243 1244
23. A.D. Roses APOE and TOMM40 in Alzheimer's Disease: A case of mistaken identity, using precision tools but with loss of accuracy J Pharmacogenomics Pharmacoproteomics 6 2015 3
24. G. Jun, C.A. Ibrahim-Verbaas, M. Vronskaya, J.C. Lambert, J. Chung, A.C. Naj, and et al. A novel Alzheimer disease locus located near the gene encoding tau protein Mol Psychiatry 21 2016 108 117
25. J.C. Lambert, C.A. Ibrahim-Verbaas, D. Harold, A.C. Naj, R. Sims, C. Bellenguez, and et al. Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease Nat Genet 45 2013 1452 1458
26. A.D. Roses, M.W. Lutz, D.G. Crenshaw, I. Grossman, A.M. Saunders, and W.K. Gottschalk Tomm40 and apoe: Requirements for replication studies of association with age of disease onset and enrichment of a clinical trial Alzheimers Dement 9 2013 132 136
27. A.D. Roses, P.A. Akkari, O. Chiba-Falek, M.W. Lutz, W.K. Gottschalk, A.M. Saunders, and et al. Structural variants can be more informative for disease diagnostics, prognostics and translation than current SNP mapping and exon sequencing Expert Opin Drug Metab Toxicol 12 2016 135 147
28. A.D. Roses Polyallelic structural variants can provide accurate, highly informative genetic markers focused on diagnosis and therapeutic targets: Accuracy vs. precision Clin Pharmacol Ther 99 2016 169 171
29. J. Mani, C. Meisinger, and A. Schneider Peeping at toms-diverse entry gates to mitochondria provide insights into the evolution of eukaryotes Mol Biol Evol 33 2016 337 351
30. W. Wang, G. Karamanlidis, and R. Tian Novel targets for mitochondrial medicine Sci Transl Med 8 2016 326rv3
31. A.D. Roses, P.L. St Jean, and M.G. Ehm Use of whole-genome association scans in disease gene identification, drug discovery and development IDrugs 10 2007 797 804
32. P. Hollingworth, D. Harold, R. Sims, A. Gerrish, J.C. Lambert, M.M. Carrasquillo, and et al. Common variants at abca7, ms4a6a/ms4a4e, epha1, cd33 and cd2ap are associated with alzheimer's disease Nat Genet 43 2011 429 435
33. A. Bender, P. Desplats, B. Spencer, E. Rockenstein, A. Adame, M. Elstner, and et al. Tom40 mediates mitochondrial dysfunction induced by alpha-synuclein accumulation in parkinson's disease PLoS One 8 2013 e62277
34. M. Ribeiro, T.R. Rosenstock, A.M. Oliveira, C.R. Oliveira, and A.C. Rego Insulin and igf-1 improve mitochondrial function in a pi-3k/akt-dependent manner and reduce mitochondrial generation of reactive oxygen species in Huntington's disease knock-in striatal cells Free Radic Biol Med 74 2014 129 144
35. S. Chang, T. ran Ma, R.D. Miranda, M.E. Balestra, R.W. Mahley, and Y. Huang Lipid- and receptor-binding regions of apolipoprotein e4 fragments act in concert to cause mitochondrial dysfunction and neurotoxicity Proc Natl Acad Sci U S A 102 2005 18694 18699
36. A.D. Roses, A.M. Saunders, M.W. Lutz, N. Zhang, A.R. Hariri, K.E. Asin, and et al. New applications of disease genetics and pharmacogenetics to drug development Curr Opin Pharmacol 14 2014 81 89
37. Y. Huang, and R.W. Mahley Apolipoprotein e: Structure and function in lipid metabolism, neurobiology, and alzheimer's diseases Neurobiol Dis 72 Pt A 2014 3 12
38. A.D. Roses, A.M. Saunders, Y. Huang, J. Strum, K.H. Weisgraber, and R.W. Mahley Complex disease-associated pharmacogenetics: Drug efficacy, drug safety, and confirmation of a pathogenetic hypothesis (Alzheimer's disease) Pharmacogenomics J 7 2007 10 28
39. H.K. Chen, Z.S. Ji, S.E. Dodson, R.D. Miranda, C.I. Rosenblum, I.J. Reynolds, and et al. Apolipoprotein e4 domain interaction mediates detrimental effects on mitochondria and is a potential therapeutic target for Alzheimer disease J Biol Chem 286 2011 5215 5221
40. J. Brodbeck, M.E. Balestra, A.M. Saunders, A.D. Roses, R.W. Mahley, and Y. Huang Rosiglitazone increases dendritic spine density and rescues spine loss caused by apolipoprotein e4 in primary cortical neurons Proc Natl Acad Sci U S A 105 2008 1343 1346
41. E.M. Reiman, R.J. Caselli, L.S. Yun, K. Chen, D. Bandy, S. Minoshima, and et al. Preclinical evidence of alzheimer's disease in persons homozygous for the epsilon 4 allele for apolipoprotein e N Engl J Med 334 1996 752 758
42. H.K. Anandatheerthavarada, G. Biswas, M.A. Robin, and N.G. Avadhani Mitochondrial targeting and a novel transmembrane arrest of alzheimer's amyloid precursor protein impairs mitochondrial function in neuronal cells J Cell Biol 161 2003 41 54
43. A.I. Hohr, S.P. Straub, B. Warscheid, T. Becker, and N. Wiedemann Assembly of beta-barrel proteins in the mitochondrial outer membrane Biochim Biophys Acta 1853 2015 74 88
44. A. Gornicka, P. Bragoszewski, P. Chroscicki, L.S. Wenz, C. Schulz, P. Rehling, and et al. A discrete pathway for the transfer of intermembrane space proteins across the outer membrane of mitochondria Mol Biol Cell 25 2014 3999 4009
45. J. Melin, C. Schulz, L. Wrobel, O. Bernhard, A. Chacinska, O. Jahn, and et al. Presequence recognition by the tom40 channel contributes to precursor translocation into the mitochondrial matrix Mol Cell Biol 34 2014 3473 3485
46. T. Shiota, K. Imai, J. Qiu, V.L. Hewitt, K. Tan, H.-H. Shen, and et al. Molecular architecture of the active mitochondrial protein gate Science 349 2015 1544
47. A.J. Kuszak, D. Jacobs, P.A. Gurnev, T. Shiota, J.M. Louis, T. Lithgow, and et al. Evidence of Distinct Channel Conformations and Substrate Binding Affinities for the Mitochondrial Outer Membrane Protein Translocase Pore Tom40 J Biol Chem 290 2015 26204 26217
48. C. Allende, E. Sohn, and C. Little Treelink: Data integration, clustering and visualization of phylogenetic trees BMC Bioinformatics 16 2015 414