Expression Profiles Of PTEN And POGZ Genes In Patients With Autism

Aim: Autism spectrum disorder (ASD), a group of heterogeneous neurodevelopmental disorders, is characterized by complex behavioral phenotypes. Despite extensive studies over many years, the causes of ASD are still unknown. PTEN and POGZ genes are studied as candidate genes that may be responsible fo...

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Main Authors: Didem Öztop, Zuhal Hamurcu, Nilfer Şahin, Esra Demirci, Tuğba Tezcan, Elif Funda Şener
Format: Article
Language:English
Published: Alanya Alaaddin Keykubat University 2022-12-01
Series:Acta Medica Alanya
Subjects:
Online Access:https://dergipark.org.tr/tr/download/article-file/2555703
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author Didem Öztop
Zuhal Hamurcu
Nilfer Şahin
Esra Demirci
Tuğba Tezcan
Elif Funda Şener
author_facet Didem Öztop
Zuhal Hamurcu
Nilfer Şahin
Esra Demirci
Tuğba Tezcan
Elif Funda Şener
author_sort Didem Öztop
collection DOAJ
description Aim: Autism spectrum disorder (ASD), a group of heterogeneous neurodevelopmental disorders, is characterized by complex behavioral phenotypes. Despite extensive studies over many years, the causes of ASD are still unknown. PTEN and POGZ genes are studied as candidate genes that may be responsible for the ASD phenotype. We aimed to investigate the expression levels of PTEN and POGZ genes in autistic patients.Methods: Gene expressions of PTEN and POGZ were investigated in 50 ASD patients and 50 age and gender matched healthy controls. This study was conducted in the Erciyes University Genome and Stem Cell Center (GENKOK).Results: POGZ gene expression was increased in patients compared to controls. According to gender, the expression results of the autistic male patients were significant. PTEN mRNA expression was not statistically significant but found to be lower in patients than in controls. The relationship between the expression of these genes and cognitive deficits was not significant.Conclusion: We recommend investigating other possible candidate genes in larger cohorts and comparing the results with different additional cilinical findings in ASD.
format Article
id doaj-art-6955c4e6efcc41239b483b40e7af28dd
institution OA Journals
issn 2587-0319
language English
publishDate 2022-12-01
publisher Alanya Alaaddin Keykubat University
record_format Article
series Acta Medica Alanya
spelling doaj-art-6955c4e6efcc41239b483b40e7af28dd2025-08-20T02:19:26ZengAlanya Alaaddin Keykubat UniversityActa Medica Alanya2587-03192022-12-016325025510.30565/medalanya.1148353727Expression Profiles Of PTEN And POGZ Genes In Patients With AutismDidem Öztop0https://orcid.org/0000-0003-3189-2112Zuhal Hamurcu1https://orcid.org/0000-0002-0711-4014Nilfer Şahin2https://orcid.org/0000-0001-7120-1561Esra Demirci3https://orcid.org/0000-0002-8424-4947Tuğba Tezcan4https://orcid.org/0000-0003-2216-4084Elif Funda Şener5https://orcid.org/0000-0002-5644-5442ANKARA ÜNİVERSİTESİ, ANKARA TIP FAKÜLTESİERCIYES UNIVERSITY, SCHOOL OF MEDICINEMUGLA SITKI KOCMAN UNIVERSITY, FACULTY OF MEDICINEERCIYES UNIVERSITY, SCHOOL OF MEDICINEKAPADOKYA VOCATIONAL SCHOOL, KAPADOKYA VOCATIONAL SCHOOLErciyes Üniversitesi, Tıp Fakültesi, Tıbbi Biyoloji Anabilim DalıAim: Autism spectrum disorder (ASD), a group of heterogeneous neurodevelopmental disorders, is characterized by complex behavioral phenotypes. Despite extensive studies over many years, the causes of ASD are still unknown. PTEN and POGZ genes are studied as candidate genes that may be responsible for the ASD phenotype. We aimed to investigate the expression levels of PTEN and POGZ genes in autistic patients.Methods: Gene expressions of PTEN and POGZ were investigated in 50 ASD patients and 50 age and gender matched healthy controls. This study was conducted in the Erciyes University Genome and Stem Cell Center (GENKOK).Results: POGZ gene expression was increased in patients compared to controls. According to gender, the expression results of the autistic male patients were significant. PTEN mRNA expression was not statistically significant but found to be lower in patients than in controls. The relationship between the expression of these genes and cognitive deficits was not significant.Conclusion: We recommend investigating other possible candidate genes in larger cohorts and comparing the results with different additional cilinical findings in ASD.https://dergipark.org.tr/tr/download/article-file/2555703otizmotizm spektrum bozukluklarıptenpogzekspresyonautismautism spectrum disordersptenpogzexpression
spellingShingle Didem Öztop
Zuhal Hamurcu
Nilfer Şahin
Esra Demirci
Tuğba Tezcan
Elif Funda Şener
Expression Profiles Of PTEN And POGZ Genes In Patients With Autism
Acta Medica Alanya
otizm
otizm spektrum bozuklukları
pten
pogz
ekspresyon
autism
autism spectrum disorders
pten
pogz
expression
title Expression Profiles Of PTEN And POGZ Genes In Patients With Autism
title_full Expression Profiles Of PTEN And POGZ Genes In Patients With Autism
title_fullStr Expression Profiles Of PTEN And POGZ Genes In Patients With Autism
title_full_unstemmed Expression Profiles Of PTEN And POGZ Genes In Patients With Autism
title_short Expression Profiles Of PTEN And POGZ Genes In Patients With Autism
title_sort expression profiles of pten and pogz genes in patients with autism
topic otizm
otizm spektrum bozuklukları
pten
pogz
ekspresyon
autism
autism spectrum disorders
pten
pogz
expression
url https://dergipark.org.tr/tr/download/article-file/2555703
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AT zuhalhamurcu expressionprofilesofptenandpogzgenesinpatientswithautism
AT nilfersahin expressionprofilesofptenandpogzgenesinpatientswithautism
AT esrademirci expressionprofilesofptenandpogzgenesinpatientswithautism
AT tugbatezcan expressionprofilesofptenandpogzgenesinpatientswithautism
AT eliffundasener expressionprofilesofptenandpogzgenesinpatientswithautism