Written by Farida El-baz, Mohammed Abd El-Aal, Tarek Moustafa Kamal, Abdelrahim Abdrabou Sadek, Amr Ahmed Othman
Parent Category: Year 2017, Volume 9
Category: Volume 9, Issue 9, September 2017
Background: Autism is currently known as "a behaviorally defined syndrome” manifested as impairment in social communication, repetitive routines and restricted interests. There is an increased risk of ASDs associated with common mutations affecting the folate/methylation cycle.
Aim: The aim of this study was to identify C677T and 1298AC polymorphic genotypes of MTHFR gene among a sample of Egyptian children with autism and to make a phenotype-genotype correlation for the autistic patients.
Methods: This case-control study was carried out from 2013 through 2015. The study included 31 children with autism and 39 children in a normal control group, the mean age of patients and control was comparable (4.5 years± 2) with males predominant in both groups. We used DSM-V-TR criteria, Stanford-Binet intelligence scale V and childhood autism rating scale (CARS) for assessments. Genotyping for MTHFR gene polymorphic loci C677T and 1298AC was performed on amplified DNA by PCR with subsequent reverse hybridization and restriction fragment length polymorphisms analysis. Data were analyzed by SPSS version 11, using Chi-Square, independent-samples t-test, and ANOVA.
Results: There was significant relationship between low birth weight and occurrence of autism (p<0.01), and between delayed motor and social milestones in cases of autism compared to controls (p<0.01). Heterozygosity for A1298C polymorphism was highest among patients (41.9%) followed by 35.5% mutant genotype CC and 22.6% normal AA (wild) type and Allele C was detected in patients more than in control (56.45% vs. 11.54%) (p<0.001). For C667T polymorphism, heterozygosity was also highest among patients (48.4%) followed by wild type genotypes C677 (38.7%) and 12.9% for mutant genotypes 667T. Allele T appeared more in patients than control (31.10 %vs. 5.13%) (p<0.00). Heterozygosity for CT and A-C genotypes were detected equally (46.2%) among patients with severe autism (according to CARS).
Conclusion: There is a significant association between severity and occurrence of autism with MTHFR gene polymorphisms C677T and A1298C. Further studies are needed on a larger scale to explore other genes polymorphisms that may be associated with autism, to correlate the genetic basis of autism.
Kobe 11 MentalityNike
Keywords: Autism; MTHFR; Genotype; Phenotype
Volume 13, Issue 1, January-March 2021
The worldwide spread of COVID-19 as an emerging, rapidly evolving situation, and the dramatic need of urgent medicine or vaccine, has rapidly brought new hypotheses for pathophysiology and potential medicinal agents to the fore. It is crucial that the research community provide a way to publish this research in a timely manner.
To contribute to this important public health discussion, the Electronic Physician Journal is excited to announce a fast-track procedure to help researchers publish their articles on COVID-19 related subjects that fall under the broad definition of public health, internal medicine, and pharmacology. We are especially welcome to all hypotheses about the pathological basis of the COVID-19 infection and the possible characteristics of potential medicine and vaccine. Submit your manuscript here
The most recent editorial (June 2020)
Lessons from COVID-19 pandemic and the Morocco’s success story.
An editorial by Dr. Benksim Abdelhafid (Morocco)
The 6th World Conference on Research Integrity (WCRI) is to be held on June 2-5, 2019 in Hong Kong.
The WCRI is the largest and most significant international conference on research integrity. Since the first conference in Lisbon in 2007, it has given researchers, teachers, funding agencies, government officials, journal editors, senior administrators, and research students opportunities to share experiences and to discuss and promote integrity in research. Read more:
TDR Clinical Research and Development Fellowships
Call for applications
Deadline for submission: 7 March 2019, 16:00 (GMT)
TDR provides fellowships for early- to mid-career researchers and clinical trial staff (e.g. clinicians, pharmacists, medical statisticians, data managers, other health researchers) in low- and middle-income countries (LMICs) to learn how to conduct clinical trials. Read more:
Meta-Analysis Workshops in New York, USA, and London, UK, in April and May 2019
Don't miss this exceptional opportunity to learn how to perform and report a Meta-analysis correctly. Two Meta-analysis workshops are organized in April and May 2019 by Dr. Michael Borenstein in New York, USA (April 08-10, 2019) and London, UK (May 27-29).
About the Instructor
Dr. Michael Borenstein, one of the authors of Introduction to Meta-Analysis, is widely recognized for his ability to make statistical concepts accessible to researchers as well as to statisticians. He has lectured widely on meta-analysis, including at the NIH, CDC, and FDA. Read more: