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Apolipoprotein E genotype and neurological disease onset in Niemann–Pick disease, type C1
dc.contributor.authorFu, Raoen_US
dc.contributor.authorYanjanin, Nicole M.en_US
dc.contributor.authorElrick, Matthew J.en_US
dc.contributor.authorWare, Christopheren_US
dc.contributor.authorLieberman, Andrew P.en_US
dc.contributor.authorPorter, Forbes D.en_US
dc.date.accessioned2012-11-07T17:04:31Z
dc.date.available2014-01-07T14:51:07Zen_US
dc.date.issued2012-11en_US
dc.identifier.citationFu, Rao; Yanjanin, Nicole M.; Elrick, Matthew J.; Ware, Christopher; Lieberman, Andrew P.; Porter, Forbes D. (2012). "Apolipoprotein E genotype and neurological disease onset in Niemann–Pick disease, type C1 ." American Journal of Medical Genetics Part A 158A(11): 2775-2780. <http://hdl.handle.net/2027.42/94247>en_US
dc.identifier.issn1552-4825en_US
dc.identifier.issn1552-4833en_US
dc.identifier.urihttps://hdl.handle.net/2027.42/94247
dc.description.abstractNiemann–Pick disease, type C1 (NPC1) is a lipid storage disorder that results in progressive neurological impairment. The NPC1 phenotype is extremely variable and at the individual level is likely influenced by other genetic traits. In addition to residual function of NPC1 protein, we hypothesize that modifier genes, as frequently observed with other autosomal recessive diseases, influence the NPC phenotype. The NPC1 phenotype includes progressive dementia, and the NPC pathology has some overlap with the pathology of Alzheimer disease (AD). Thus, we examined apolipoprotein E (ApoE) and microtubule‐associated protein tau (MAPT) polymorphisms in a cohort of 15 NPC1 patients with well characterized longitudinal disease progression. Although we did not find any correlations between disease severity and tau polymorphisms, we found significant associations between ApoE polymorphisms and phenotypic severity. Specifically, ApoE4 and ApoE2 alleles were associated, respectively, with increased and decreased disease severity in this cohort of NPC1 patients. These data support the hypothesis that ApoE may play a role in modulating NPC1 neuropathology. © 2012 Wiley Periodicals, Inc.en_US
dc.publisherWiley Subscription Services, Inc., A Wiley Companyen_US
dc.subject.otherTauen_US
dc.subject.otherApolipoprotein Een_US
dc.subject.otherNeurodegenerative Diseaseen_US
dc.subject.otherLysosomal Storage Diseaseen_US
dc.titleApolipoprotein E genotype and neurological disease onset in Niemann–Pick disease, type C1en_US
dc.typeArticleen_US
dc.rights.robotsIndexNoFollowen_US
dc.subject.hlbsecondlevelGeneticsen_US
dc.subject.hlbtoplevelHealth Sciencesen_US
dc.description.peerreviewedPeer Revieweden_US
dc.contributor.affiliationumDepartment of Pathology, University of Michigan Medical School, Ann Arbor, Michiganen_US
dc.contributor.affiliationotherProgram in Developmental Endocrinology and Genetics, NICHD, NIH, DHHS, Bld. 10, Rm. 9D42, 10 Center Dr., Bethesda, MD 20892.en_US
dc.contributor.affiliationotherSchool of Basic Medical Sciences, Peking University, Beijing, Chinaen_US
dc.contributor.affiliationotherSection on Molecular Dysmorphology, Program in Developmental Endocrinology and Genetics, NICHD, NIH, DHHS, Bethesda, Marylanden_US
dc.identifier.pmid23023945en_US
dc.description.bitstreamurlhttp://deepblue.lib.umich.edu/bitstream/2027.42/94247/1/35395_ftp.pdf
dc.identifier.doi10.1002/ajmg.a.35395en_US
dc.identifier.sourceAmerican Journal of Medical Genetics Part Aen_US
dc.identifier.citedreferenceShaw‐Smith C, Pittman AM, Willatt L, Martin H, Rickman L, Gribble S, Curley R, Cumming S, Dunn C, Kalaitzopoulos D., et al. 2006. Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability. Nat Genet 38: 1032 – 1037.en_US
dc.identifier.citedreferenceAccurso FJ, Sontag MK. 2008. Gene modifiers in cystic fibrosis. J Clin Invest 118: 839 – 841.en_US
dc.identifier.citedreferenceAsada T, Kariya T, Yamagata Z, Kinoshita T, Asaka A. 1996. ApoE epsilon 4 allele and cognitive decline in patients with Alzheimer's disease. Neurology 47: 603.en_US
dc.identifier.citedreferenceBaker M, Litvan I, Houlden H, Adamson J, Dickson D, Perez‐Tur J, Hardy J, Lynch T, Bigio E, Hutton M. 1999. Association of an extended haplotype in the tau gene with progressive supranuclear palsy. Hum Mol Genet 8: 711 – 715.en_US
dc.identifier.citedreferenceBignall J. 1993. APOE gene dose in Alzheimer's disease. Lancet 342: 426.en_US
dc.identifier.citedreferenceChen Y, Durakoglugil MS, Xian X, Herz J. 2010. ApoE4 reduces glutamate receptor function and synaptic plasticity by selectively impairing ApoE receptor recycling. Proc Natl Acad Sci USA 107: 12011 – 12016.en_US
dc.identifier.citedreferenceEisenberg DT, Kuzawa CW, Hayes MG. 2010. Worldwide allele frequencies of the human apolipoprotein E gene: Climate, local adaptations, and evolutionary history. Am J Phys Anthropol 143: 100 – 111.en_US
dc.identifier.citedreferenceGhozlan A, Varoquaux O, Abadie V. 2004. Is monoamine oxydase‐B a modifying gene and phenylethylamine a harmful compound in phenylketonuria? Mol Genet Metab 83: 337 – 340.en_US
dc.identifier.citedreferenceHan X. 2004. The role of apolipoprotein E in lipid metabolism in the central nervous system. Cell Mol Life Sci 61: 1896 – 1906.en_US
dc.identifier.citedreferenceHixson JE, Vernier DT. 1990. Restriction isotyping of human apolipoprotein E by gene amplification and cleavage with HhaI. J Lipid Res 31: 545 – 548.en_US
dc.identifier.citedreferenceHuang TC, Lu KT, Wo YY, Wu YJ, Yang YL. 2011. Resveratrol protects rats from Aβ‐induced neurotoxicity by the reduction of iNOS expression and lipid peroxidation. PLoS ONE 6: e29102.en_US
dc.identifier.citedreferenceJin LW, Shie FS, Maezawa I, Vincent I, Bird T. 2004. Intracellular accumulation of amyloidogenic fragments of amyloid‐beta precursor protein in neurons with Niemann‐Pick type C defects is associated with endosomal abnormalities. Am J Pathol 164: 975 – 985.en_US
dc.identifier.citedreferenceLossos A, Schlesinger I, Okon E, Abramsky O, Bargal R, Vanier MT, Zeigler M. 1997. Adult‐onset Niemann‐Pick type C disease. Clinical, biochemical, and genetic study. Arch Neurol 54: 1536 – 1541.en_US
dc.identifier.citedreferenceMann KM, Thorngate FE, Katoh‐Fukui Y, Hamanaka H, Williams DL, Fujita S, Lamb BT. 2004. Independent effects of APOE on cholesterol metabolism and brain Abeta levels in an Alzheimer disease mouse model. Hum Mol Genet 13: 1959 – 1968.en_US
dc.identifier.citedreferenceMattsson N, Zetterberg H, Bianconi S, Yanjanin NM, Fu R, Mansson JE, Porter FD, Blennow K. Gamma‐secretase‐dependent amyloid‐beta is increased in Niemann‐Pick type C: A cross‐sectional study. Neurology 76: 366 – 372.en_US
dc.identifier.citedreferenceMontine TJ, Markesbery WR, Zackert W, Sanchez SC, Roberts LJ 2nd, Morrow JD. 1999. The magnitude of brain lipid peroxidation correlates with the extent of degeneration but not with density of neuritic plaques or neurofibrillary tangles or with APOE genotype in Alzheimer's disease patients. Am J Pathol 155: 863 – 868.en_US
dc.identifier.citedreferenceSaito Y, Suzuki K, Hulette CM, Murayama S. 2004. Aberrant phosphorylation of alpha‐synuclein in human Niemann‐Pick type C1 disease. J Neuropathol Exp Neurol 63: 323 – 328.en_US
dc.identifier.citedreferenceSuzuki K, Parker CC, Pentchev PG, Katz D, Ghetti B, D'Agostino AN, Carstea ED. 1995. Neurofibrillary tangles in Niemann‐Pick disease type C. Acta Neuropathol 89: 227 – 238.en_US
dc.identifier.citedreferenceTiraboschi P, Hansen LA, Thal LJ, Corey‐Bloom J. 2004. The importance of neuritic plaques and tangles to the development and evolution of AD. Neurology 62: 1984 – 1989.en_US
dc.identifier.citedreferenceTyrrell J, Cosgrave M, Hawi Z, McPherson J, O'Brien C, McCalvert J, McLaughlin M, Lawlor B, Gill M. 1998. A protective effect of apolipoprotein E e2 allele on dementia in Down's syndrome. Biol Psychiatry 43: 397 – 400.en_US
dc.identifier.citedreferenceVerghese PB, Castellano JM, Holtzman DM. 2011. Apolipoprotein E in Alzheimer's disease and other neurological disorders. Lancet Neurol 10: 241 – 252.en_US
dc.identifier.citedreferenceWeingarten MD, Lockwood AH, Hwo SY, Kirschner MW. 1975. A protein factor essential for microtubule assembly. Proc Natl Acad Sci USA 72: 1858 – 1862.en_US
dc.identifier.citedreferenceYamaguchi H, Sugihara S, Ogawa A, Oshima N, Ihara Y. 2001. Alzheimer beta amyloid deposition enhanced by apoE epsilon4 gene precedes neurofibrillary pathology in the frontal association cortex of nondemented senior subjects. J Neuropathol Exp Neurol 60: 731 – 739.en_US
dc.identifier.citedreferenceYanjanin NM, Velez JI, Gropman A, King K, Bianconi SE, Conley SK, Brewer CC, Solomon B, Pavan WJ, Arcos‐Burgos M., et al. 2010. Linear clinical progression, independent of age of onset, in Niemann‐Pick disease, type C. Am J Med Genet B Neuropsychiatr Genet 153B: 132 – 140.en_US
dc.identifier.citedreferenceYe J, Zhang Y. 2012. Curcumin protects against intracellular amyloid toxicity in rat primary neurons. Int J Clin Exp Med 5: 44 – 49.en_US
dc.identifier.citedreferenceZuo L, van Dyck CH, Luo X, Kranzler HR, Yang BZ, Gelernter J. 2006. Variation at APOE and STH loci and Alzheimer's disease. Behav Brain Funct 2: 13.en_US
dc.owningcollnameInterdisciplinary and Peer-Reviewed


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