Otizmli Hastalarda PTEN Ve POGZ Genlerinin Ekspresyon Profilleri

Year 2022, , 250 - 255, 31.12.2022

Tuğba Tezcan , Elif Funda Şener , Esra Demirci , Nilfer Şahin , Zuhal Hamurcu , Didem Öztop

https://doi.org/10.30565/medalanya.1148353

Abstract

Amaç: Otizm spektrum bozukluğu (OSB), karmaşık davranışsal fenotiplerle karakterize, heterojen bir grup nörogelişimsel bozukluktur. Uzun yıllar boyunca yapılan kapsamlı çalışmalara rağmen, OSB'nin nedenleri hala bilinmemektedir. PTEN ve POGZ genleri, OSB fenotipinden sorumlu olabilecek aday genler olarak gösterilmiştir. Otistik hastalarda PTEN ve POGZ genlerinin ekspresyon düzeylerini araştırmayı amaçladık.

Yöntem: OSB tanılı 50 hastada ve yaş-cinsiyet uyumlu 50 sağlıklı kontrolde PTEN ve POGZ gen ekspresyonları araştırıldı. Bu çalışma Erciyes Üniversitesi Genom ve Kök Hücre Merkezi'nde (GENKÖK) yapılmıştır.

Bulgular: POGZ geninin hastalarda kontrollere göre daha fazla eksprese olduğu ve otistik erkek hastalarda bu genin ekspresyonunun anlamlı olduğu bulundu. PTEN gen ekspresyonu istatistiksel olarak anlamlı değildi ancak hastalarda kontrollere göre daha düşük bulundu. Bu genlerin ekspresyonu ile bilişsel gerilik arasındaki ilişki ise anlamlı değildi.

Sonuç: Daha büyük hasta grupları ile diğer olası aday genlerin araştırılmasını ve sonuçların farklı ek klinik belirtilerle hastalarda karşılaştırılmasını önermekteyiz. 

Keywords

Otizm, Otizm Spektrum Bozuklukları, PTEN, POGZ, Ekspresyon

Supporting Institution

Erciyes Üniversitesi Bilimsel Araştırma Projeleri Bİrimi

Project Number

TYL-2017-5789

Thanks

Yazarlar, katkılarından dolayı çalışmaya katılan hastalara teşekkür ederler. Authors, thanks to study participants for their contribution.

Expression Profiles Of PTEN And POGZ Genes In Patients With Autism

Abstract

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.

Keywords

Autism, Autism Spectrum Disorders, PTEN, POGZ, Expression

Project Number

TYL-2017-5789

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