Therapeutic considerations for APOE and TOMM40 in Alzheimers disease: A tribute to Allen Roses MD

References

• Strittmatter WJ, Saunders AM, Schmechel D, et al. Apolipoprotein E: high-avidity binding to beta-amyloid and increased frequency of type 4 allele in late-onset familial Alzheimer disease. Proc Natl Acad Sci U S A. 1993;90(5):1977–1981.
   PubMed Web of Science ®Google Scholar
• Roses A, Sundseth S, Saunders A, et al. Understanding the genetics of APOE and TOMM40 and role of mitochondrial structure and function in clinical pharmacology of Alzheimer’s disease. Alzheimers Dement. 2016;12(6):687–694.
   PubMed Web of Science ®Google Scholar
• Nicodemus KK, Stenger JE, Schmechel DE, et al. Comprehensive association analysis of APOE regulatory region polymorphisms in Alzheimer disease. Neurogenetics. 2004;5(4):201–208.
   PubMed Web of Science ®Google Scholar
• Corder EH, Saunders AM, Strittmatter WJ, et al. Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer’s disease in late onset families. Science. 1993;261(5123):921–923.
   PubMed Web of Science ®Google Scholar
• Beam CR, Kaneshiro C, Jang JY, et al. Study of sex differences in genetic risk for all dementia, Alzheimer’s Disease (AD), and Non-AD Dementia. J Alzheimers Dis. 2020;76:539–551. [published online ahead of print, 2020 Jun 6].
   PubMed Web of Science ®Google Scholar
• Levi O, Relo A, Feldon J, et al. ApoE4 impairs hippocampal plasticity isoform-specifically and blocks the environmental stimulation of synaptogenesis and memory. Neurobiol Dis. 2003;13:273–282.
   PubMed Web of Science ®Google Scholar
• Levi O, Michaelson D. Environmental enrichment stimulates neurogenesis in apolipoprotein E3 and neuronal apoptosis in apolipoprotein E transgenic mice. J Neurochem. 2007;100:202–210.
   PubMed Web of Science ®Google Scholar
• Makkar SR, Lipnicki DM, Crawford JD, et al. APOE ε4 and the influence of sex, age, vascular risk factors, and ethnicity on cognitive decline. J Gerontol A Biol Sci Med Sci. 2020;glaa116. [published online ahead of print, 2020 May 12]. DOI:10.1093/gerona/glaa116.
   Web of Science ®Google Scholar
• Romas SN, Santana V, Williamson J, et al. Familial Alzheimer Disease among caribbean hispanics: a reexamination of its association with APOE. Arch Neurol. 2002;59(1):87–91.
   PubMedGoogle Scholar
• Roses AD, Lutz MW, Saunders AM, et al. African-American TOMM40’523-APOE haplotypes are admixture of West African and Caucasian alleles. Alzheimers Dement. 2014;10(6):592–601.e2.
   PubMed Web of Science ®Google Scholar
• Blennow K, de Leon MJ, Zetterberg H. Alzheimer’s disease. Lancet. 2006;368(9533):387–403.
   PubMed Web of Science ®Google Scholar
• Polvikoski T, Sulkava R, Haltia M, et al. Apolipoprotein E, dementia, and cortical deposition of beta-amyloid protein. N Engl J Med. 1995;333(19):1242–1247.
   PubMed Web of Science ®Google Scholar
• Saunders AM, Schmader K, Breitner JC, et al. Apolipoprotein E epsilon 4 allele distributions in late-onset Alzheimer’s disease and in other amyloid-forming diseases. Lancet. 1993;342(8873):710–711.
   PubMed Web of Science ®Google Scholar
• Liraz O, Boehm-Cagan A, Michaelson DM. ApoE4 induces Aβ42, tau, and neuronal pathology in the hippocampus of young targeted replacement apoE4 mice. Mol Neurodegener. 2013;8:16. Published 2013 May 17.
   PubMed Web of Science ®Google Scholar
• Cacciaglia R, Molinuevo JL, Falcón C, et al. Effects of APOE-ε4 allele load on brain morphology in a cohort of middle-aged healthy individuals with enriched genetic risk for Alzheimer’s disease. Alzheimers Dement. 2018;14(7):902–912.
   PubMed Web of Science ®Google Scholar
• Roses AD, Lutz MW, Amrine-Madsen H, et al. A TOMM40 variable-length polymorphism predicts the age of late-onset Alzheimer’s disease. Pharmacogenomics J. 2010;10(5):375–384.
   PubMed Web of Science ®Google Scholar
• Zeitlow K, Charlambous L, Ng I, et al. The biological foundation of the genetic association of TOMM40 with late-onset Alzheimer’s disease. Biochim Biophys Acta Mol Basis Dis. 2017;1863(11):2973–2986. [published correction appears in Biochim Biophys Acta. 2018 Jan 27;:].
   PubMed Web of Science ®Google Scholar
• Yu L, Lutz MW, Wilson RS, et al. TOMM40’523 variant and cognitive decline in older persons with APOE ε3/3 genotype. Neurology. 2017;88(7):661–668.
   PubMed Web of Science ®Google Scholar
• Burggren AC, Mahmood Z, Harrison TM, et al. Hippocampal thinning linked to longer TOMM40 poly-T variant lengths in the absence of the APOE ε4 variant. Alzheimers Dement. 2017;13(7):739–748.
   PubMed Web of Science ®Google Scholar
• Yu L, Lutz MW, Wilson RS, et al. APOE ε4-TOMM40 ‘523 haplotypes and the risk of Alzheimer’s disease in older Caucasian and African Americans. PloS One. 2017;12(7):e0180356.
   PubMed Web of Science ®Google Scholar
• Ferencz B, Karlsson S, Kalpouzos G. Promising genetic biomarkers of preclinical Alzheimer’s Disease: the influence of APOE and TOMM40 on brain integrity. Int J Alzheimers Dis. 2012;2012:421452.
   PubMedGoogle Scholar
• Lyall DM, Royle NA, Harris SE, et al. Alzheimer’s disease susceptibility genes APOE and TOMM40, and hippocampal volumes in the Lothian birth cohort 1936. PLoS One. 2013;8(11):e80513. Published 2013 Nov 15.
   PubMed Web of Science ®Google Scholar
• Potkin SG, Guffanti G, Lakatos A, et al. Hippocampal atrophy as a quantitative trait in a genome-wide association study identifying novel susceptibility genes for Alzheimer’s disease. PLoS One. 2009;4(8):e6501. Published 2009 Aug 7.
   PubMed Web of Science ®Google Scholar
• Guo Y, Xu W, Li JQ, et al. Genome-wide association study of hippocampal atrophy rate in non-demented elders. Aging (Albany NY). 2019;11(22):10468–10484.
   PubMedGoogle Scholar
• Malykhin N, Scott T, Fujiwara E, et al. The associations of the BDNF and APOE polymorphisms, hippocampal subfield volumes, and episodic memory performance across the lifespan. Hippocampus. 2020;30:1081–1097.
   PubMed Web of Science ®Google Scholar
• Ferencz B, Laukka EJ, Lövdén M, et al. The influence of APOE and TOMM40 polymorphisms on hippocampal volume and episodic memory in old age. Front Hum Neurosci. 2013;7:198.
   PubMed Web of Science ®Google Scholar
• Willette AA, Webb JL, Lutz MW, et al. Family history and TOMM40 ‘523 interactive associations with memory in middle-aged and Alzheimer’s disease cohorts. Alzheimers Dement. 2017;13(11):1217–1225.
   PubMed Web of Science ®Google Scholar
• Dubois B, Epelbaum S, Nyasse F, et al. Cognitive and neuroimaging features and brain β-amyloidosis in individuals at risk of Alzheimer’s disease (INSIGHT-preAD): a longitudinal observational study. Lancet Neurol. 2018;17(4):335–346. [published correction appears in Lancet Neurol. 2018 Apr 25;:].
   PubMed Web of Science ®Google Scholar
• Yamazaki Y, Zhao N, Caulfield TR, et al. Apolipoprotein E and Alzheimer disease: pathobiology and targeting strategies. Nat Rev Neurol. 2019;15(9):501–518.
   PubMed Web of Science ®Google Scholar
• Burns DK, Chiang C, Welsh-Bohmer KA, et al. The TOMMORROW study: design of an Alzheimer’s disease delay-of-onset clinical trial. Alzheimers Dement (N Y). 2019;5:661–670. Published 2019 Oct 28.
   PubMedGoogle Scholar
• Alzheimer’s Association. Generations Study: alzheimer’s prevention initiative (web). [Cited 2020 May 7]. https://www.alz.org/stepupthepace/API.asp
   Google Scholar
• Sevigny J, Chiao P, Bussière T, et al. The antibody aducanumab reduces Aβ plaques in Alzheimer’s disease. Nature. 2016;537(7618):50–56.
   PubMed Web of Science ®Google Scholar
• Arrighi HM, Barakos J, Barkhof F, et al. Amyloid-related imaging abnormalities-haemosiderin (ARIA-H) in patients with Alzheimer’s disease treated with bapineuzumab: a historical, prospective secondary analysis. J Neurol Neurosurg Psychiatry. 2016;87(1):106–112.
   PubMed Web of Science ®Google Scholar
• Abushakra S, Porsteinsson A, Vellas B, et al. Clinical benefits of tramiprosate in Alzheimer’s disease are associated with higher number of APOE4 alleles: the ”APOE4 gene-dose effect”. J Prev Alzheimers Dis. 2016;3:219–228.
   PubMedGoogle Scholar
• De Beaumont L, Pelleieux S, Lamarre-Théroux L, et al. Butyrylcholinesterase K and apolipoprotein E-ɛ4 reduce the age of onset of Alzheimer’s Disease, accelerate cognitive decline, and modulate donepezil response in mild cognitively impaired subjects. J Alzheimers Dis. 2016;54(3):913–922.
   PubMed Web of Science ®Google Scholar
• Weill Medical College of Cornell University. (2019). Gene Therapy for APOE4 Homozygote of Alzheimer’s Disease (Clinicaltrials.gov Identifier NCT03634007. [Cited 2020 Aug 6]. https://clinicaltrials.gov/ct2/show/NCT03634007
   Google Scholar