Mutation in the 3'untranslated region of APP as a genetic determinant of cerebral amyloid angiopathy

European Journal of Human Genetics

Volumn 24, Issue 1, 2016, Pages 92-98

  Nicolas, Gaël ^a,b,c   Wallon, David ^a,b,c   Goupil, Claudia ^d,e   Richard, Anne Claire ^a   Pottier, Cyril ^a   Dorval, Véronique ^d,e   Sarov Rivière, Mariana ^f   Riant, Florence ^g,h   Hervé, Dominique ^g   Amouyel, Philippe ^i,j,k,l   Guerchet, Maelenn ^m   Ndamba Bandzouzi, Bebene ⁿ   Mbelesso, Pascal ^m,o   Dartigues, Jean François ^h   Lambert, Jean Charles ^i,j,k   Preux, Pierre Marie ^m,p   Frebourg, Thierry ^a,b   Campion, Dominique ^a,c,q   Hannequin, Didier ^a,b,c   Tournier Lasserve, Elisabeth ^g   Hébert, Sébastien S ^d,e   Rovelet Lecrux, Anne ^a   more..

^a UNIVERSITY OF ROUEN   (France)

^b ROUEN UNIVERSITY HOSPITAL   (France)

^c CNR MAJ   (France)

^d LAVAL UNIVERSITY   (Canada)

^e UNIVERSITÉ LAVAL   (Canada)

^f BICÊTRE HOSPITAL   (France)

^g HÔPITAL LARIBOISIÈRE   (France)

^h INSERM   (France)

ⁱ Univ Lille   (France)

^j UNIV LILLE   (France)

^k INSTITUT PASTEUR DE LILLE   (France)

^l LILLE UNIVERSITY HOSPITAL   (France)

^m UNIVERSITÉ DE LIMOGES   (France)

ⁿ Amitié Hospital   (Central African Republic)

^o Brazzaville University Hospital   (Congo)

^p LIMOGES UNIVERSITY HOSPITAL   (France)

^q Rouvray Psychiatric Hospital   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

AMYLOID PRECURSOR PROTEIN; MICRORNA; 3' UNTRANSLATED REGION; APP PROTEIN, HUMAN; MIRN582 MICRORNA, HUMAN; MIRN892 MICRORNA, HUMAN;

3' UNTRANSLATED REGION; ARTICLE; BASE PAIRING; CONTROLLED STUDY; DIFFUSION WEIGHTED IMAGING; GENE DELETION; GENE MUTATION; GENETIC VARIABILITY; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; PRIORITY JOURNAL; PROTEIN EXPRESSION; RNA BINDING; RNA STRUCTURE; SEQUENCE ANALYSIS; VASCULAR AMYLOIDOSIS; ADULT; BINDING SITE; BIOLOGY; CONFORMATION; DNA SEQUENCE; FEMALE; GENE EXPRESSION REGULATION; GENETICS; MALE; METABOLISM; MIDDLE AGED; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; ONSET AGE; PATHOLOGY;

3' UNTRANSLATED REGIONS; ADULT; AGE OF ONSET; AMYLOID BETA-PROTEIN PRECURSOR; BASE SEQUENCE; BINDING SITES; CEREBRAL AMYLOID ANGIOPATHY; COMPUTATIONAL BIOLOGY; FEMALE; GENE EXPRESSION REGULATION; HUMANS; MALE; MICRORNAS; MIDDLE AGED; MOLECULAR SEQUENCE DATA; NUCLEIC ACID CONFORMATION; SEQUENCE ANALYSIS, DNA; SEQUENCE DELETION;

EID: 84951573722     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2015.61     Document Type: Article

References (25)

1. Greenberg SM, Vonsattel JP. Diagnosis of cerebral amyloid angiopathy. Sensitivity and specificity of cortical biopsy. Stroke 1997; 28: 1418-1422
2. Biffi A, Greenberg SM. Cerebral amyloid angiopathy: a systematic review. J Clin Neurol 2011; 7: 1-9
3. Rannikmae K, Samarasekera N, Martinez-Gonzalez NA, Al-Shahi Salman R, Sudlow CL. Genetics of cerebral amyloid angiopathy: systematic review and meta-analysis. J Neurol Neurosurg Psychiatry 2013; 84: 901-908
4. McCarron MO, Nicoll JA. Apolipoprotein E genotype and cerebral amyloid angiopathyrelated hemorrhage. Ann NY Acad Sci 2000; 903: 176-179
5. Rovelet-Lecrux A, Hannequin D, Raux G et al. APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy. Nat Genet 2006; 38: 24-26
6. Pottier C, Wallon D, Lecrux AR et al. Amyloid-beta protein precursor gene expression in alzheimer's disease and other conditions. J Alzheimers Dis 2012; 28: 561-566
7. Donahue JE, Khurana JS, Adelman LS. Intracerebral hemorrhage in two patients with Down's syndrome and cerebral amyloid angiopathy. Acta Neuropathol 1998; 95: 213-216
8. Bettens K, Brouwers N, Engelborghs S et al. APP and BACE1 miRNA genetic variability has no major role in risk for Alzheimer disease. Hum Mutat 2009; 30: 1207-1213
9. Delay C, Calon F, Mathews P, Hebert SS. Alzheimer-specific variants in the 3'UTR of Amyloid precursor protein affect microRNA function. Mol Neurodegener 2011; 6: 70
10. Filipowicz W, Bhattacharyya SN, Sonenberg N. Mechanisms of post-transcriptional regulation by microRNAs: are the answers in sight?. Nat Rev Genet 2008; 9: 102-114
11. Hebert SS, De Strooper B. Alterations of the microRNA network cause neurodegenerative disease. Trends Neurosci 2009; 32: 199-206
12. Hebert SS, Nelson PT. Studying microRNAs in the brain: technical lessons learned from the first ten years. Exp Neurol 2012; 235: 397-401
13. Linn J, Halpin A, Demaerel P et al. Prevalence of superficial siderosis in patients with cerebral amyloid angiopathy. Neurology 2010; 74: 1346-1350
14. Guerchet M, Mbelesso P, Ndamba-Bandzouzi B et al. Epidemiology of dementia in Central Africa (EPIDEMCA): Protocol for a multicentre population-based study in rural and urban areas of the Central African Republic and the Republic of Congo. Springerplus 2014; 3: 338
15. Bindewald E, Kluth T, Shapiro BA. CyloFold: secondary structure prediction including pseudoknots. Nucleic Acids Res 2010; 38: W368-W372
16. Kertesz M, Iovino N, Unnerstall U, Gaul U, Segal E. The role of site accessibility in microRNA target recognition. Nat Genet 2007; 39: 1278-1284
17. Hebert SS, Horre K, Nicolai L et al. MicroRNA regulation of Alzheimer's Amyloid precursor protein expression. Neurobiol Dis 2009; 33: 422-428
18. Dorval V, Mandemakers W, Jolivette F et al. Gene and MicroRNA transcriptome analysis of Parkinson's related LRRK2 mouse models. PloS One 2014; 9: e85510
19. Hebert SS, Wang WX, Zhu Q, Nelson PT: A study of small RNAs from cerebral neocortex of pathology-verified Alzheimer's disease, dementia with lewy bodies, hippocampal sclerosis, frontotemporal lobar dementia, and non-demented human controls. J Alzheimers Dis 2013; 35: 335-348
20. Theuns J, Brouwers N, Engelborghs S et al. Promoter mutations that increase amyloid precursor-protein expression are associated with Alzheimer disease. Am J Hum Genet 2006; 78: 936-946
21. Lahiri DK, Ge YW, Maloney B, Wavrant-De Vrieze F, Hardy J. Characterization of two APP gene promoter polymorphisms that appear to influence risk of late-onset Alzheimer's disease. Neurobiol Aging 2005; 26: 1329-1341
22. Guyant-Marechal L, Rovelet-Lecrux A, Goumidi L et al. Variations in the APP gene promoter region and risk of Alzheimer disease. Neurology 2007; 68: 684-687
23. Nowotny P, Simcock X, Bertelsen S et al. Association studies testing for risk for lateonset Alzheimer's disease with common variants in the beta-amyloid precursor protein (APP). Am J Med Genet B Neuropsychiatr Genet 2007; 144B: 469-474
24. Delay C, Mandemakers W, Hebert SS. MicroRNAs in Alzheimer's disease. Neurobiol Dis 2012; 46: 285-290
25. Long JM, Ray B, Lahiri DK. MicroRNA-153 physiologically inhibits expression of amyloid-beta precursor protein in cultured human fetal brain cells and is dysregulated in a subset of Alzheimer disease patients. J Biol Chem 2012; 287: 31298-31310