Dynamin 2 gene is a novel susceptibility gene for late-onset Alzheimer disease in non-APOE-ε4 carriers View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2008-01-31

AUTHORS

Nuripa Jenishbekovna Aidaralieva, Kouzin Kamino, Ryo Kimura, Mitsuko Yamamoto, Takeshi Morihara, Hiroaki Kazui, Ryota Hashimoto, Toshihisa Tanaka, Takashi Kudo, Tomoyuki Kida, Jun-Ichiro Okuda, Takeshi Uema, Hidehisa Yamagata, Tetsuro Miki, Hiroyasu Akatsu, Kenji Kosaka, Masatoshi Takeda

ABSTRACT

Alzheimer disease (AD) is characterized by progressive cognitive decline caused by synaptic dysfunction and neurodegeneration in the brain, and late-onset AD (LOAD), genetically classified as a polygenetic disease, is the major form of dementia in the elderly. It has been shown that β amyloid, deposited in the AD brain, interacts with dynamin 1 and that the dynamin 2 (DNM2) gene homologous to the dynamin 1 gene is encoded at chromosome 19p13.2 where a susceptibility locus has been detected by linkage analysis. To test the genetic association of LOAD with the DNM2 gene, we performed a case–control study of 429 patients with LOAD and 438 sex- and age-matched control subjects in a Japanese population. We found a significant association of LOAD with single nucleotide polymorphism markers of the DNM2 gene, especially in non-carriers of the apolipoprotein E-ε4 allele. Even though subjects with the genotype homozygous for the risk allele at rs892086 showed no mutation in exons of the DNM2 gene, expression of DNM2 mRNA in the hippocampus was decreased in the patients compared to non-demented controls. We propose that the DNM2 gene is a novel susceptibility gene for LOAD. More... »

PAGES

296-302

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s10038-008-0251-9

DOI

http://dx.doi.org/10.1007/s10038-008-0251-9

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1002336140

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/18236001


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20 schema:description Alzheimer disease (AD) is characterized by progressive cognitive decline caused by synaptic dysfunction and neurodegeneration in the brain, and late-onset AD (LOAD), genetically classified as a polygenetic disease, is the major form of dementia in the elderly. It has been shown that β amyloid, deposited in the AD brain, interacts with dynamin 1 and that the dynamin 2 (DNM2) gene homologous to the dynamin 1 gene is encoded at chromosome 19p13.2 where a susceptibility locus has been detected by linkage analysis. To test the genetic association of LOAD with the DNM2 gene, we performed a case–control study of 429 patients with LOAD and 438 sex- and age-matched control subjects in a Japanese population. We found a significant association of LOAD with single nucleotide polymorphism markers of the DNM2 gene, especially in non-carriers of the apolipoprotein E-ε4 allele. Even though subjects with the genotype homozygous for the risk allele at rs892086 showed no mutation in exons of the DNM2 gene, expression of DNM2 mRNA in the hippocampus was decreased in the patients compared to non-demented controls. We propose that the DNM2 gene is a novel susceptibility gene for LOAD.
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27 Alzheimer's disease
28 DNM2 gene
29 DNM2 mRNA
30 Japanese population
31 age-matched control subjects
32 alleles
33 amyloid
34 analysis
35 apolipoprotein E (APOE) ε4 allele
36 association
37 brain
38 carriers
39 case-control study
40 chromosome 19p13.2
41 cognitive decline
42 control
43 control subjects
44 decline
45 dementia
46 disease
47 dynamin 1
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49 dynamin 2 gene
50 dysfunction
51 exons
52 expression
53 form
54 genes
55 genetic association
56 genotypes
57 hippocampus
58 late-onset AD
59 late-onset Alzheimer's disease
60 linkage analysis
61 loci
62 mRNA
63 major form
64 markers
65 mutations
66 neurodegeneration
67 non-demented controls
68 novel susceptibility genes
69 patients
70 polygenetic disease
71 polymorphism markers
72 population
73 progressive cognitive decline
74 risk alleles
75 sex
76 significant association
77 single nucleotide polymorphism (SNP) markers
78 study
79 subjects
80 susceptibility genes
81 susceptibility loci
82 synaptic dysfunction
83 β-amyloid
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