Alyssa Breton
akb1002@wildcats.unh.edu
University of New Hampshire-Manchester

Abstract

Autism Spectrum Disorder is a developmental disorder that has been inconsistently linked to certain genes, one of those being MEF2A. Scientists have been studying different bodily tissues, specific genes, and potential neurological differences in individuals diagnosed with autism. So far, thirty-one sets of genes have been identified as being expressed differently in individuals diagnosed with autism (Ansel, 2017). After research, it was found that MEF2A is a protein-coding gene that codes for genes that have been linked to autism.
Gene expression changes have been investigated due to the usual early diagnosis of Autism Spectrum Disorder. Gene expression changes occur when an individual is young and developing. As they get older, gene expression changes decrease. Even with these genetic links found, scientists have still have difficulty understanding the overall genetic factors of autism due to the inconsistency of genetic findings.

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Figure 1. Examples of functional genomic properties of the brain.Ziats, M. N. (2015, October 27). [Functional genomic properties of the brain.]. Retrieved May 5, 2017, from http://www.nature.com/tp/journal/v5/n10/fig_tab/tp2015153f1.html#figure-title



Background

  • A neurological and developmental disorder that affects the behavior and mental processing (medlineplus.gov)
  • Begins in early childhood and last throughout a person's life (medlineplus.gov)
  • 1 in 68 children in the United States are diagnosed with autism (Ansel, 2017)
  • 1 in 42 children diagnosed are male (Ansel, 2017)
  • Altered behaviors include communication skills, sensory processing, thinking processes, and the inability to adapt to change
  • Individuals do best with a set daily schedule
  • Due to the range in severity levels, Autism is measured on a spectrum scale: high functioning to low functioning
    • Low functioning consists of severe learning disabilities, sensory overload, and minimal social and communication skills
    • High functioning consists of seeming to be fairly social, an above average IQ, remembering specific details

Introduction


For decades, Autism Spectrum Disorder has had many unanswered questions. One in sixty-eight children in the United States are diagnosed with autism and one in forty-two children diagnosed are male (Ansel, 2017). Autism Spectrum Disorder is a neurodevelopmental disorder that affects the behavior and overall mental processing of an individual. Some altered behaviors are social and communication skills, sensory processing, thinking processes, and the inability to adapt to change. The ability to remember specific details and quickly learn new things is also common (medlineplus.gov).
A big struggle for individuals on the autism spectrum is adapting to change. A daily routine is necessary in order to help cope with daily struggles. Sudden changes in the routine can lead to anxious outbursts and tantrums or cause an individual to completely shutdown and withdraw from a situation. Sensory processing is another difficulty that individuals with autism have to deal with. This can cause them to be sensitive to loud noises or specific sounds. Certain textures on their skin are also a significant sensory processing difficulty. When an individual links their sensory sensitivity to an action, place, or object, it causes a strong dislike leading to avoidance, anxiety, and/or angry outbursts or tantrums. These behavioral traits that an individual portrays could be the result of autism-linked genes that are related to the formation of synapses in the nervous system (Ziats, 2015).
Currently, autism is being diagnosed based solely on phenotypic traits displayed by an individual rather than genotype. Scientists are still in the early stages of discovering the genetic factors that eventually lead to an autistic diagnosis, but are making progress. So far, there have been hundreds of genes that have been linked to the susceptibility of developing autism, but few cases have been linked to these gene mutations. No matter how many different studies are done, a specific cause has not been determined (Ansel, 2017).
Current research regarding autism is focusing on different tissues found in the body. There have been numerous findings in the brains of individuals diagnosed with autism compared to a control group. The research that has been done on the brain has led to questions about gene expression in the brain. Using different tissues allows conclusions to be drawn from more than the genetic testing that has been done in the past (Ansel, 2017). MEF2A is among the multiple genes of interest to scientists researching the genomic links of autism. The gene MEF2A has been found in a number of individuals with autism, but its significance to the disorder is still unknown (Doan, 2016).

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