The effects and interactions of APOE and APH-1A polymorphisms in Alzheimer disease

Burcu Acar ÇİNLETİ; Nilgül YARDIMCI; Zübeyde AYTÜRK; Atilla İLHAN; Gülhan KAYA; Muradiye ACAR; Emine Rabia KOÇ; Esra GÜNDÜZ; Mehmet GÜNDÜZ

Article Details

The effects and interactions of APOE and APH-1A polymorphisms in Alzheimer disease

Authors:

Burcu Acar ÇİNLETİ | Nilgül YARDIMCI | Zübeyde AYTÜRK | Atilla İLHAN | Gülhan KAYA | Muradiye ACAR | Emine Rabia KOÇ | Esra GÜNDÜZ | Mehmet GÜNDÜZ

Publisher:

TUBITAK

Journal:

Turkish Journal of Medical Sciences 2015 Vol.45 Issue 5, pp.1098-1105

Document Type:

Article

Publication Date:

12/2015

Document Language:

Turkish

Document ID (Org No.):

2000752513

Frequency:

Bimonthly

eISSN:

1303-6165

pISSN:

1300-0144

Keywords:

Abstract:

 

Background/aim: Alzheimer disease (AD) is characterized by the accumulation of senile plaques composed of amyloid β-peptide, which is derived from β-amyloid precursor protein through degradation by β-secretase and γ-secretase complexes. One of the major components of γ-secretase complex, anterior pharynx-defective-1 (APH-1), is responsible for the activity of the γ-secretase complex. In this study, we searched for not only the most known common genetic risk factor, APOE, but also the APH-1a gene polymorphism in AD patients in a Turkish population.   Materials and methods: In this study, 49 AD patients and 45 healthy controls were included. The genetic polymorphisms and allele frequencies of APOE and APH-1a were investigated. Patients were evaluated for behavioral, cognitive, and functional domains by detailed neurocognitive tests, and comparison between the above-mentioned polymorphisms and disease severity was made.   Results: Although there was an increased tendency of the APO ?4 allele in the AD group, no statistically significant difference was detected either in APOE or APH-1a polymorphisms, not suggesting a strong susceptibility to the development of AD.  Conclusion: While searching for the pathogenesis of AD in order to develop novel diagnostic as well as therapeutic approaches, analysis of other genes with a possible role in AD is warranted.

 

Background/aim: Alzheimer disease (AD) is characterized by the accumulation of senile plaques composed of amyloid β-peptide, which is derived from β-amyloid precursor protein through degradation by β-secretase and γ-secretase complexes. One of the major components of γ-secretase complex, anterior pharynx-defective-1 (APH-1), is responsible for the activity of the γ-secretase complex. In this study, we searched for not only the most known common genetic risk factor, APOE, but also the APH-1a gene polymorphism in AD patients in a Turkish population.   Materials and methods: In this study, 49 AD patients and 45 healthy controls were included. The genetic polymorphisms and allele frequencies of APOE and APH-1a were investigated. Patients were evaluated for behavioral, cognitive, and functional domains by detailed neurocognitive tests, and comparison between the above-mentioned polymorphisms and disease severity was made.   Results: Although there was an increased tendency of the APO ?4 allele in the AD group, no statistically significant difference was detected either in APOE or APH-1a polymorphisms, not suggesting a strong susceptibility to the development of AD.  Conclusion: While searching for the pathogenesis of AD in order to develop novel diagnostic as well as therapeutic approaches, analysis of other genes with a possible role in AD is warranted.

Article Details

The effects and interactions of APOE and APH-1A polymorphisms in Alzheimer disease

Authors:

Burcu Acar ÇİNLETİ | Nilgül YARDIMCI | Zübeyde AYTÜRK | Atilla İLHAN | Gülhan KAYA | Muradiye ACAR | Emine Rabia KOÇ | Esra GÜNDÜZ | Mehmet GÜNDÜZ

Publisher:

TUBITAK

Journal:

Turkish Journal of Medical Sciences 2015 Vol.45 Issue 5, pp.1098-1105

Document Type:

Article

Publication Date:

12/2015

Document Language:

Turkish

Document ID (Org No.):

2000752513

Frequency:

Bimonthly

eISSN:

1303-6165

pISSN:

1300-0144

Alzheimer disease

APOE

APH-1A

polymorphism

biomarker

Issues

Article Details

The effects and interactions of APOE and APH-1A polymorphisms in Alzheimer disease

Authors: Burcu Acar ÇİNLETİ | Nilgül YARDIMCI | Zübeyde AYTÜRK | Atilla İLHAN | Gülhan KAYA | Muradiye ACAR | Emine Rabia KOÇ | Esra GÜNDÜZ | Mehmet GÜNDÜZ

Publisher: TUBITAK

Journal: Turkish Journal of Medical Sciences 2015 Vol.45 Issue 5, pp.1098-1105

Document Type: Article

Publication Date: 12/2015

Document Language: Turkish

Document ID (Org No.): 2000752513

Frequency: Bimonthly

eISSN: 1303-6165

pISSN: 1300-0144

Alzheimer disease

APOE

APH-1A

polymorphism

biomarker

Issues

Authors:

Burcu Acar ÇİNLETİ | Nilgül YARDIMCI | Zübeyde AYTÜRK | Atilla İLHAN | Gülhan KAYA | Muradiye ACAR | Emine Rabia KOÇ | Esra GÜNDÜZ | Mehmet GÜNDÜZ

Publisher:

TUBITAK

Journal:

Turkish Journal of Medical Sciences 2015 Vol.45 Issue 5, pp.1098-1105

Document Type:

Article

Publication Date:

12/2015

Document Language:

Turkish

Document ID (Org No.):

2000752513

Frequency:

Bimonthly

eISSN:

1303-6165

pISSN:

1300-0144