Investigation of PSEN1&2 genes in early onset Alzheimer’s disease patients

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

doi:10.1016/j.neurobiolaging.2013.10.061

Abstract

Objectives: Alzheimer disease (AD), the most common cause of dementia in the elderly, is usually divided into familial and sporadic forms, according to family history. The familial form has often been reportedly caused by mutations in amyloid precursor protein (APP), presenilin-1(PSEN1) or presenilin-2(PSEN2) genes.The aim of this study was investigation of PSEN1 and PSEN2 hot spot exons in early onset Alzheimer’s disease(EOAD).

Methods: 24 patients (whose age at onset was less than 65 years) with EOAD in an Iranian population and 48 age-and sex matched healthy subjects were included in this study. Total DNAs were extracted from blood samples. PCR-sequencing methods were used to amplify and analyze the above exones of our patients and DNA samples were compared with controls.

Results: Two known mutations (Glu 120 Lys in exon 5 of 2 patients and Arg 62 His in exon5 of 1 patient) were found.

Conclusions: Exons 5 and 7 of PSEN1 gene and exons 5 and 6 of PSEN2 were not hot spots in Iranian patients with EOAD

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.2013.10.061
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.2013.10.061

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@article{3070f80250384d369ea39278a236d54e,

title = "Investigation of PSEN1\&2 genes in early onset Alzheimer{\textquoteright}s disease patients",

abstract = "Objectives: Alzheimer disease (AD), the most common cause of dementia in the elderly, is usually divided into familial and sporadic forms, according to family history. The familial form has often been reportedly caused by mutations in amyloid precursor protein (APP), presenilin-1(PSEN1) or presenilin-2(PSEN2) genes.The aim of this study was investigation of PSEN1 and PSEN2 hot spot exons in early onset Alzheimer{\textquoteright}s disease(EOAD). Methods: 24 patients (whose age at onset was less than 65 years) with EOAD in an Iranian population and 48 age-and sex matched healthy subjects were included in this study. Total DNAs were extracted from blood samples. PCR-sequencing methods were used to amplify and analyze the above exones of our patients and DNA samples were compared with controls. Results: Two known mutations (Glu 120 Lys in exon 5 of 2 patients and Arg 62 His in exon5 of 1 patient) were found. Conclusions: Exons 5 and 7 of PSEN1 gene and exons 5 and 6 of PSEN2 were not hot spots in Iranian patients with EOAD",

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

year = "2014",

month = mar,

doi = "10.1016/j.neurobiolaging.2013.10.061",

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 - Investigation of PSEN1&2 genes in early onset Alzheimer’s disease patients

AU - Akbari, Leila

AU - Azadfar, Parisa

AU - Sheibani-Nia, Samira

AU - Noroozıan, Maryam

AU - Assarzadegan, Farhad

AU - Houshmand, Massoud

PY - 2014/3

Y1 - 2014/3

N2 - Objectives: Alzheimer disease (AD), the most common cause of dementia in the elderly, is usually divided into familial and sporadic forms, according to family history. The familial form has often been reportedly caused by mutations in amyloid precursor protein (APP), presenilin-1(PSEN1) or presenilin-2(PSEN2) genes.The aim of this study was investigation of PSEN1 and PSEN2 hot spot exons in early onset Alzheimer’s disease(EOAD). Methods: 24 patients (whose age at onset was less than 65 years) with EOAD in an Iranian population and 48 age-and sex matched healthy subjects were included in this study. Total DNAs were extracted from blood samples. PCR-sequencing methods were used to amplify and analyze the above exones of our patients and DNA samples were compared with controls. Results: Two known mutations (Glu 120 Lys in exon 5 of 2 patients and Arg 62 His in exon5 of 1 patient) were found. Conclusions: Exons 5 and 7 of PSEN1 gene and exons 5 and 6 of PSEN2 were not hot spots in Iranian patients with EOAD

AB - Objectives: Alzheimer disease (AD), the most common cause of dementia in the elderly, is usually divided into familial and sporadic forms, according to family history. The familial form has often been reportedly caused by mutations in amyloid precursor protein (APP), presenilin-1(PSEN1) or presenilin-2(PSEN2) genes.The aim of this study was investigation of PSEN1 and PSEN2 hot spot exons in early onset Alzheimer’s disease(EOAD). Methods: 24 patients (whose age at onset was less than 65 years) with EOAD in an Iranian population and 48 age-and sex matched healthy subjects were included in this study. Total DNAs were extracted from blood samples. PCR-sequencing methods were used to amplify and analyze the above exones of our patients and DNA samples were compared with controls. Results: Two known mutations (Glu 120 Lys in exon 5 of 2 patients and Arg 62 His in exon5 of 1 patient) were found. Conclusions: Exons 5 and 7 of PSEN1 gene and exons 5 and 6 of PSEN2 were not hot spots in Iranian patients with EOAD

U2 - 10.1016/j.neurobiolaging.2013.10.061

DO - 10.1016/j.neurobiolaging.2013.10.061

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 -

Investigation of PSEN1&2 genes in early onset Alzheimer’s disease patients

Abstract

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