Expression des transcrits réactifs liés à l'oxygène réactif chez les enfants égyptiens avec un diagnostic d'autisme

Aperçu: G.M.

La base moléculaire du rôle pathophysiologique du stress oxydatif dans l'autisme n'est pas étudiée.

Cette étude contribue à une meilleure compréhension de la biologie sous-jacente et des facteurs génétiques connexes de l'autisme et, plus important encore, elle présente les biomarqueurs candidats suggérés à des fins de diagnostic et de pronostic ainsi que des cibles d'intervention thérapeutique. 

Biomark Insights. 2017 Feb 23;12:1177271917691035. doi: 10.1177/1177271917691035. eCollection 2017.

Expression of Reactive Oxygen Species-Related Transcripts in Egyptian Children With Autism

Meguid NA¹, Ghozlan SAS², Mohamed MF³, Ibrahim MK⁴, Dawood RM⁴, Din NGBE⁴, Abdelhafez TH⁴, Hemimi M¹, Awady MKE⁴.

Author information

1

Department of Research on Children with Special Needs, Medical Research Division, National Research Centre, Giza, Egypt.

2

Department of Chemistry, Faculty of Science, Cairo University, Giza, Egypt.

3

Department of Chemistry (Biochemistry Branch), Faculty of Science, Cairo University, Giza, Egypt.

4

Microbial Biotechnology Department, Genetic Engineering Division, National Research Centre, Giza, Egypt.

Abstract

The molecular basis of the pathophysiological role of oxidative stress in autism is understudied. Herein, we used polymerase chain reaction (PCR) array to analyze transcriptional pattern of 84 oxidative stress genes in peripheral blood mononuclear cell pools isolated from 32 autistic patients (16 mild/moderate and 16 severe) and 16 healthy subjects (each sample is a pool from 4 autistic patients or 4 controls). The PCR array data were further validated by quantitative real-time PCR in 80 autistic children (55 mild/moderate and 25 severe) and 60 healthy subjects. Our data revealed downregulation in GCLM, SOD2, NCF2, PRNP, and PTGS2 transcripts (1.5, 3.8, 1.2, 1.7, and 2.2, respectively; P < .05 for all) in autistic group compared with controls. In addition, TXN and FTH1 exhibited 1.4- and 1.7-fold downregulation, respectively, in severe autistic patients when compared with mild/moderate group (P = .005 and .0008, respectively). This study helps in a better understanding of the underlying biology and related genetic factors of autism, and most importantly, it presents suggested candidate biomarkers for diagnosis and prognosis purposes as well as targets for therapeutic intervention.

PMID: 28469396

PMCID: PMC5391985

DOI: 10.1177/1177271917691035