Genotyping and expression analysis of 16p13 region in children with Attention deficit hyperactivity disorder and autism spectrum disorder

سال انتشار: 1398
نوع سند: مقاله کنفرانسی
زبان: انگلیسی
مشاهده: 413

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شناسه ملی سند علمی:

NSCMED08_227

تاریخ نمایه سازی: 15 دی 1398

چکیده مقاله:

Background and Aim : Attention deficit hyperactivity disorder (ADHD) is a neurodevelopment behavioral disorder in children with no clarified etiology. Autism is known as a neurodevelopmental disorder with difficulty in social relationships, Verbal and non-verbal communication and Repetitive and ritualistic behaviors. Although genetics is known as the primary cause of autism and ADHD , but it is still not clear which genes and molecular mechanisms is effective in the pathogenesis of these disease. 16p13 were found as a hot spot area for pediatric psychiatric disorders with several copy number variations related to ADHD and autism. present study aimed to evaluate the genotype and expression level of four genes(ABCC1,ABCC6,MYH11,NDE1) in this area in pripheral blood of ADHD and Autism children.Methods : Blood samples of 50 ASD, 50 ADHD and 50 non psychiatric subjects were collected. RNA extracted and cDNA synthesized. Expression levels of four target genes in total blood were assessed by using Real time PCR. DNA was extracted and four candidate genes were sequenced by using ABI sequencer.Results : Results showed significant down expression of ABCC1 and ABCC6 and significant over expression of MYH11 in both patients group compared to non-psychiatric individuals. Three shared single nucleotide polymorphisms were found in ADHD band ASD patients, related to down expression of ABCC1.Conclusion : Findings suggest that genes in 16p13 area are related to the etiology of ADHD and autism and could be use as biomarkers for early diagnosis. Also it seems that there is several shared molecular mechanisms between ADHD and autism especially in pathway of ATP Binding Cassette proteins.

کلیدواژه ها:

ADHD ، Autism ، ABCC ، MYH11 ، NDE1

نویسندگان

Arvin Haghighatfard

Department of genetic, Tehran medical sciences branch, Islamic Azad University, Tehran, Iran

Parvin Shayan

Department of biology, Varamin-Pishva Branch, Islamic Azad University, Varamin, Iran