MTHFR Gene C677T Polymorphism in Autism Spectrum Disorders

Abstract

Aim. Autism is a subgroup of autism spectrum disorders, classified as a heterogeneous neurodevelopmental disorder and symptoms occur in the first three years of life. The etiology of autism is largely unknown, but it has been accepted that genetic and environmental factors may both be responsible for the disease. Recent studies have revealed that the genes involved in the folate/homocysteine pathway may be risk factors for autistic children. In particular, C677T polymorphism in the MTHFR gene as a possible risk factor for autism is still controversial. We aimed to investigate the possible effect of C677T polymorphism in a Turkish cohort. Methods. Autism patients were diagnosed by child psychiatrists according to DSM-IV and DSM-V criteria. A total of 98 children diagnosed as autistic and 70 age and sex-matched children who are nonautistic were tested for C677T polymorphism. This polymorphism was studied by using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) methods. Results. MTHFR 677T-allele frequency was found to be higher in autistic children compared with nonautistic children (29% versus 24%), but it was not found statistically significant. Conclusions. We conclude that other MTHFR polymorphisms such as A1298C or other folate/homocysteine pathway genes may be studied to show their possible role in autism.

Investigation of SLC6A4 gene expression in autism spectrum disorders

“…Bugün için hastalık tanısı Amerikan Psikiyatri Birliği'nin Mayıs 2013'te tanı kriterlerini genişlettiği DSM-V'e (Diagnostic and Statistical Manual of Mental Disorders, 5 th edition) göre konmaktadır [4]. Hastalık etiyolojisinde genetik bir taban olduğu bilinmesine rağmen yapılan tüm çalışmalar hastalık patogenezini aydınlatmada yetersiz kalmıştır [5,6]. Otizmi anlamak adına yapılan genetik çalışmalar spesifik genlerdeki riskli varyantları tanımlayarak etiyolojide rol oynayan biyolojik mekanizmaları aydınlatmaya yöneliktir.…”

The prevalence of homozygous MTHFR polymorphism(s) in a Turkish university hospital population that necessitated MTHFR polymorphism investigation

“…There are various reports related to the prevalence of MTHFR C677T and A1298C polymorphisms in different study populations in Turkey (18)(19)(20)(21)(22)(23). Most of these studies are clinical series on different medical disorders (22,(24)(25)(26). In this short communication, we have aimed to demonstrate the allelic frequencies and the prevalence of homozygous MTHFR C677T and A1298C polymorphisms in patients that necessitated investigation of these mutations.…”

MTHFR rs1801133 Gene Polymorphism and Autism Susceptibility

“…The MTHFR gene has been reported to increase the risk of birth defects such as neural tube defects and Down Syndrome [19,20]. Also, MTHFR polymorphism has been demonstrated to be associated with neurodevelopmental disorders such as schizophrenia and autism [21,22]. It has been shown that the MTHFR 677T allele might have an effect on the risk of schizophrenia in the Chinese Han population [23].…”