Angelman Syndrome: An Autism Spectrum Disorder


  • Andrew J. Kennedy Judson University
  • Jeffrey O. Henderson Judson University
Keywords: Angelman syndrome, autism spectrum, UBE3A, maternal chromosome 15, neurodevelopmental disorder

Abstract


Neurodevelopmental disorders limit the mental, physical, and social lives of affected individuals and their families. These disorders are often related to genetic abnormalities having a distinct chromosomal location. The abnormalities can cause incorrect proteins to be formed or biochemical pathways to be blocked, predominately affecting brain development, but also having pleiotropic effects. Research into defining and correcting these genetic abnormalities is important to help distinguish between unique neurodevelopmental disorders so that proper clinical interventions are available for affected individuals. In the following review, Angelman syndrome, which results from UBE3A gene function being lost at maternal chromosome  15q11.2-q13, will be discussed. Angelman patients suffer from the defining characteristics of speech impairment, uncontrolled laughing and smiling, motor development issues, muscle tension, and possible ataxia. The genetic mechanisms of the disorder as well as possible therapies will be discussed, with future areas of research into genetic therapies to treat Angelman syndrome also put forth. Research into Angelman syndrome can provide an avenue for a clearer understanding of other neurodevelopmental disorders.

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Author Biographies

Andrew J. Kennedy, Judson University
Biochemistry Major in the Honors Program, Class of 2018
Jeffrey O. Henderson, Judson University

Professor of Biology

Department of Science and Mathematics

 


Published
05-09-2018

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How to Cite
Kennedy, A. J., & Henderson, J. O. (2018). Angelman Syndrome: An Autism Spectrum Disorder. Journal of Student Research, 6(2), 56-60. Retrieved from https://www.jofsr.org/index.php/path/article/view/399
Section
Review Articles