The role of apolipoprotein E as a risk factor for an earlier age at onset for machado-joseph disease is doubtful

PLoS ONE

Volumn 9, Issue 11, 2014, Pages

  Zhou, Qi ^a,b   Ni, Wang ^a,b   Dong, Yi ^c   Wang, Ning ^b   Gan, Shi Rui ^b   Wu, Zhi Ying ^a,c  

^a ZHEJIANG UNIVERSITY   (China)

^b FUJIAN MEDICAL UNIVERSITY   (China)

^c FUDAN UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

APOLIPOPROTEIN E; ATAXIN 3; ATXN3 PROTEIN, HUMAN; NERVE PROTEIN; NUCLEAR PROTEIN; REPRESSOR PROTEIN;

ADULT; ALLELE; APOE GENE; ARTICLE; ATXN3 GENE; CAG REPEAT; CHINA; CONTROLLED STUDY; DISEASE ASSOCIATION; FEMALE; GENE FUNCTION; GENE INTERACTION; GENOTYPE; HUMAN; MACHADO JOSEPH DISEASE; MAJOR CLINICAL STUDY; MALE; ONSET AGE; PROTEIN DETERMINATION; PROTEIN FUNCTION; PROTEIN POLYMORPHISM; RISK ASSESSMENT; RISK FACTOR; ADOLESCENT; AGED; ANALYSIS OF VARIANCE; CHILD; COHORT ANALYSIS; GENETICS; METABOLISM; MIDDLE AGED; PATHOLOGY; SINGLE NUCLEOTIDE POLYMORPHISM; STATISTICAL MODEL; TRINUCLEOTIDE REPEAT; YOUNG ADULT;

ADOLESCENT; ADULT; AGE OF ONSET; AGED; ALLELES; ANALYSIS OF VARIANCE; APOLIPOPROTEINS E; CHILD; COHORT STUDIES; FEMALE; GENOTYPE; HUMANS; LINEAR MODELS; MACHADO-JOSEPH DISEASE; MALE; MIDDLE AGED; NERVE TISSUE PROTEINS; NUCLEAR PROTEINS; POLYMORPHISM, SINGLE NUCLEOTIDE; REPRESSOR PROTEINS; RISK FACTORS; TRINUCLEOTIDE REPEATS; YOUNG ADULT;

EID: 84934323893     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0111356     Document Type: Article

References (26)

1. Takiyama Y, Oyanagi S, Kawashima S, Sakamoto H, Saito K, et al. (1994) A clinical and pathologic study of a large Japanese family with Machado-Joseph disease tightly linked to the DNA markers on chromosome 14q. Neurology 44: 1302-1308.
2. Durr A (2010) Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond. Lancet Neurol 9: 885-894.
3. Kawaguchi Y, Okamoto T, Taniwaki M, Aizawa M, Inoue M, et al. (1994) CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nat Genet 8: 221-228.
4. Maciel P, Gaspar C, DeStefano AL, Silveira I, Coutinho P, et al. (1995) Correlation between CAG repeat length and clinical features in Machado- Joseph disease. Am J Hum Genet 57: 54-61.
5. van de Warrenburg BP, Hendriks H, Dürr A, van Zuijlen MC, Stevanin G, et al. (2005) Age at onset variance analysis in spinocerebellar ataxias: A study in a Dutch-French cohort. Ann Neurol 57: 505-512.
6. França MC Jr, Emmel VE, D9Abreu A, Maurer-Morelli CV, Secolin R, et al. (2012) Normal ATXN3 Allele but Not CHIP Polymorphisms Modulates Age at Onset in Machado-Joseph Disease. Front Neurol 3: 164.
7. DeStefano AL, Cupples LA, Maciel P, Gaspar C, Radvany J, et al. (1996) A familial factor independent of CAG repeat length influences age at onset of Machado-Joseph disease. Am J Hum Genet 59: 119-127.
8. Lin-Lee YC, Kao FT, Cheung P, Chan L (1985) Apolipoprotein E gene mapping and expression: localization of the structural gene to human chromosome 19 and expression of APOE mRNA in lipoprotein- and nonlipoprotein- producing tissues. Biochemistry 24: 3751-3756.
9. Weisgraber KH, Rall SC Jr, Mahley RW (1981) Human E apoprotein heterogeneity. Cysteine-arginine interchanges in the amino acid sequence of the apo-E isoforms. J Biol Chem 256: 9077-9083.
10. Hauser PS, Narayanaswami V, Ryan RO (2011) Apolipoprotein E: from lipid transport to neurobiology. Prog Lipid Res 50: 62-74.
11. Corder EH, Saunders AM, Strittmatter WJ, Schmechel DE, Gaskell PC, et al. (1993) Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late onset families. Science 261: 921-923.
12. Nakagawa Y, Kitamoto T, Furukawa H, Ogomori K, Tateishi J (1995) Apolipoprotein E in Creutzfeldt-Jakob disease. Lancet 345: 68.
13. Ghaffar O, Reis M, Pennell N, O'Connor P, Feinstein A (2010) APOE epsilon4 and the cognitive genetics of multiple sclerosis. Neurology 74: 1611-1618.
14. Verghese PB, Castellano JM, Holtzman DM (2011) Apolipoprotein E in Alzheimer's disease and other neurological disorders. Lancet Neurol 10: 241- 252.
15. Kehoe P, Krawczak M, Harper PS, Owen MJ, Jones AL (1999) Age of onset in Huntington disease: sex specific influence of apolipoprotein E genotype and normal CAG repeat length. J Med Genet 36: 108-111.
16. Panas M, Avramopoulos D, Karadima G, Petersen MB, Vassilopoulos D (1999) Apolipoprotein E and presenilin-1 genotypes in Huntington's disease. J Neurol 246: 574-577.
17. Rubinsztein DC, Leggo J, Chiano M, Dodge A, Norbury G, et al. (1997) Genotypes at the GluR6 kainate receptor locus are associated with variation in the age of onset of Huntington disease. Proc Natl Acad Sci U S A 94: 3872- 3876.
18. Saft C, Andrich JE, Brune N, Gencik M, Kraus PH, et al. (2004) Apolipoprotein E genotypes do not influence the age of onset in Huntington's disease. J Neurol Neurosurg Psychiatry 75: 1692-6.
19. Andresen JM, Gayan J, Cherny SS, Brocklebank D, Alkorta-Aranburu, et al. (2007) Replication of twelve association studies for Huntington's disease residual age of onset in large Venezuelan kindreds. J Med Genet 44: 44-50.
20. Bettencourt C, Raposo M, Kazachkova N, Cymbron T, Santos C, et al. (2011) The APOE e2 allele increases the risk of earlier age at onset in Machado-Joseph disease. Arch Neurol 68: 1580-1583.
21. Peng H, Wang C, Chen Z, Sun Z, Jiao B,, et al. (2014) The APOE e2 allele may decrease the age at onset in patients with spinocerebellar ataxia type 3 or Machado-Joseph disease from the Chinese Han population. Neurobiol Aging 22.pii: S0197-4580(14)00274-00277.
22. Gan SR, Shi SS, Wu JJ, Wang N, Zhao GX, et al. (2010) High frequency of Machado-Joseph disease identified in southeastern Chinese kindreds with spinocerebellar ataxia. BMC Med Genet 11: 47.
23. Dürr A, Stevanin G, Cancel G, Duyckaerts C, Abbas N, Didierjean O, et al. (1996) Spinocerebellar ataxia 3 and Machado-Joseph disease: clinical, molecular, and neuropathological features. Ann Neurol 39: 490-499.
24. Djoussé L, Knowlton B, Hayden M, Almqvist EW, Brinkman R, et al. (2003) Interaction of normal and expanded CAG repeat sizes influences age at onset of Huntington disease. Am J Med Genet A 119A: 279-282.
25. Aziz NA, Jurgens CK, Landwehrmeyer GB, EHDN Registry Study Group, van Roon-Mom WM, et al. (2011) Normal and mutant HTT interact to affect clinical severity and progression in Huntington disease. Neurology 73: 1280- 1285.
26. Slepko N, Bhattacharyya AM, Jackson GR, Steffan JS, Marsh JL, et al. (2006) Normal-repeat-length polyglutamine peptides accelerate aggregation nucleation and cytotoxicity of expanded polyglutamine proteins. Proc Natl AcadSci U S A 103: 14367-14372.