Analysis of APP gene in early onset Alzheimer's disease patients

Parisa Azadfar; Leila Akbari; Samira Sheibani-Nia; Maryam Noroozıan; Farhad Assarzadegan; Massoud Houshmand

doi:10.1016/j.neurobiolaging.2013.10.062

Abstract

Objectives. Alzheimer’s disease (AD) is a progressive neurodegenerative disease that is characterized by memory loss and personality changes. Mutations in amyloid precursor protein (APP) are known to cause early-onset Alzheimer’s disease (EOAD). The aim of this study was to examine the variation of exons 16 and 17 of APP gene mutation in cognitive function in EOAD; these exones were hot spots in Italy, Belgium and Germany, and so were chosen.

Methods. In this study, 24 patients and 48 individuals as control group were used. After PCR amplification, genotypes were analyzed with sequencing methods.

Results. Single nucleotide substitutions at exon 16 of the APP gene at position T12931884A in intron 16 which had 26 nucleotides to coding region was found in one Iranian patient with AD, but no other variations were found in exons 16 and 17 of APP gene in early-onset AD.

Conclusions. Exons 16 and 17 are not hot spots in Iranian AD patients.

Original language	English
Pages (from-to)	722
Number of pages	1
Journal	Neurobiology of Aging
Volume	35
Issue number	3
DOIs	https://doi.org/10.1016/j.neurobiolaging.2013.10.062
Publication status	Published - Mar 2014
Externally published	Yes
Event	Sixth International Conference on Alzheimer’s Disease and Related Disorders in the Middle East - Istanbul, Turkey Duration: 25 Oct 2013 → 27 Oct 2013

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10.1016/j.neurobiolaging.2013.10.062

Cite this

@article{7479149f68764f03a4c15fc7a4f4e3ef,

title = "Analysis of APP gene in early onset Alzheimer's disease patients",

abstract = "Objectives. Alzheimer{\textquoteright}s disease (AD) is a progressive neurodegenerative disease that is characterized by memory loss and personality changes. Mutations in amyloid precursor protein (APP) are known to cause early-onset Alzheimer{\textquoteright}s disease (EOAD). The aim of this study was to examine the variation of exons 16 and 17 of APP gene mutation in cognitive function in EOAD; these exones were hot spots in Italy, Belgium and Germany, and so were chosen. Methods. In this study, 24 patients and 48 individuals as control group were used. After PCR amplification, genotypes were analyzed with sequencing methods. Results. Single nucleotide substitutions at exon 16 of the APP gene at position T12931884A in intron 16 which had 26 nucleotides to coding region was found in one Iranian patient with AD, but no other variations were found in exons 16 and 17 of APP gene in early-onset AD. Conclusions. Exons 16 and 17 are not hot spots in Iranian AD patients.",

author = "Parisa Azadfar and Leila Akbari and Samira Sheibani-Nia and Maryam Noroozıan and Farhad Assarzadegan and Massoud Houshmand",

year = "2014",

month = mar,

doi = "10.1016/j.neurobiolaging.2013.10.062",

language = "English",

volume = "35",

pages = "722",

journal = "Neurobiology of Aging",

issn = "0197-4580",

publisher = "Elsevier",

number = "3",

note = "Sixth International Conference on Alzheimer{\textquoteright}s Disease and Related Disorders in the Middle East ; Conference date: 25-10-2013 Through 27-10-2013",

}

TY - JOUR

T1 - Analysis of APP gene in early onset Alzheimer's disease patients

AU - Azadfar, Parisa

AU - Akbari, Leila

AU - Sheibani-Nia, Samira

AU - Noroozıan, Maryam

AU - Assarzadegan, Farhad

AU - Houshmand, Massoud

PY - 2014/3

Y1 - 2014/3

N2 - Objectives. Alzheimer’s disease (AD) is a progressive neurodegenerative disease that is characterized by memory loss and personality changes. Mutations in amyloid precursor protein (APP) are known to cause early-onset Alzheimer’s disease (EOAD). The aim of this study was to examine the variation of exons 16 and 17 of APP gene mutation in cognitive function in EOAD; these exones were hot spots in Italy, Belgium and Germany, and so were chosen. Methods. In this study, 24 patients and 48 individuals as control group were used. After PCR amplification, genotypes were analyzed with sequencing methods. Results. Single nucleotide substitutions at exon 16 of the APP gene at position T12931884A in intron 16 which had 26 nucleotides to coding region was found in one Iranian patient with AD, but no other variations were found in exons 16 and 17 of APP gene in early-onset AD. Conclusions. Exons 16 and 17 are not hot spots in Iranian AD patients.

AB - Objectives. Alzheimer’s disease (AD) is a progressive neurodegenerative disease that is characterized by memory loss and personality changes. Mutations in amyloid precursor protein (APP) are known to cause early-onset Alzheimer’s disease (EOAD). The aim of this study was to examine the variation of exons 16 and 17 of APP gene mutation in cognitive function in EOAD; these exones were hot spots in Italy, Belgium and Germany, and so were chosen. Methods. In this study, 24 patients and 48 individuals as control group were used. After PCR amplification, genotypes were analyzed with sequencing methods. Results. Single nucleotide substitutions at exon 16 of the APP gene at position T12931884A in intron 16 which had 26 nucleotides to coding region was found in one Iranian patient with AD, but no other variations were found in exons 16 and 17 of APP gene in early-onset AD. Conclusions. Exons 16 and 17 are not hot spots in Iranian AD patients.

U2 - 10.1016/j.neurobiolaging.2013.10.062

DO - 10.1016/j.neurobiolaging.2013.10.062

M3 - Meeting abstract

SN - 0197-4580

VL - 35

SP - 722

JO - Neurobiology of Aging

JF - Neurobiology of Aging

IS - 3

T2 - Sixth International Conference on Alzheimer’s Disease and Related Disorders in the Middle East

Y2 - 25 October 2013 through 27 October 2013

ER -

Analysis of APP gene in early onset Alzheimer's disease patients

Abstract

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