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Tuesday, 11 September 2018

Methylenetetrahydrofolate Reductase A1298C Polymorphism and Autism Susceptibility

                                                http://austinpublishinggroup.com/autism/



Autism is a complex neurodevelopment disorder involving multiple organ systems, primarily immunological, gastrointestinal and neurological ones and appears in the early years of life. It is currently estimated that 3-6 children out of 1000 worldwide have autism spectrum disorder (ASD). The incidence of autism has increased rapidly in recent decades. It is a heterogeneous neurological disorder characterized by three core behavior abnormalities-namely, deficits in social interaction, reduced verbal and nonverbal communication, and highly focused stereotyped behaviors that emerge after a period of relatively normal development. A number of factors such as genetic, epigenetic, environmental and autoimmune function have been implicated in the etiology of autism.

One carbon (C1) metabolism is a likely pathway to regulate epigenetic processes in autism. CI metabolism is comprised of three interconnected pathways-folate cycle, methionine cycle and transsulfuration cycle. The folate and methionine pathway mediates de novo nucelotide synthesis for DNA repair and replication and DNA methylations. The transsulfuration pathway balance cellular redox.

There are several evidences that in autistic children, DNA methylation and DNA repair are altered  as well as dysregulation of redox homeostasis which reinforces a critical role for CI metabolism in the etiology of ASDs. One carbon metabolic pathway include several genes and most of them are polymorphic especially methylenetetrahydrofolate reductase (MTHFR) and methionine synthase reductase (MTRR) and frequency of mutant alleles varies greatly worldwide.

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