Genetic Mutations and Eating Disordered Behaviors

To date, it has been well documented that eating disorders (ED) are complex, multifactorial diseases. Sociocultural, family, biological and environmental factors impact one’s susceptibility to develop an eating disorder. In addition to these vulnerability factors, it has been identified that specific psychological traits and endocrine links that are often found to be coupled with ED suggest a degree of psychological and physiological heritability. While the implications of genetic mutations in ED have been widely studied, over the last few years, genome-wide association studies of GWAS have advanced as a result of new capabilities in mutation searches.

Genetic Mutations Impact on Eating Disorders

Interestingly, studies on the genetic links with obesity demonstrated that the main pathways in eating behaviors surround central neurotransmission of serotonin and dopamine–the reward-related pathways. Unfortunately, a commonly regarded thought that ED is a western, culture-bound syndrome may have prevented this obesity-based genetic origin research from including emotional and uncontrollable eating and its association with ED. Science Trends writes, “The existence of this gap in the research of the ED is especially surprising because one could easily make a compelling case for the involvement of obesity-related mutations in ED such as bulimia, binge-eating disorder or even the anorexia binge-purge subtype, where emotional and uncontrolled eating are also present.”

Given this information, we can expect that similar alterations in genes involved in the regulation of eating may also develop aberrant conduct patterns that contribute toward the development of ED. This hypothesis led a team of researchers to further evaluate the link between obesity pathways and ED pathways. Specific genes that were targeted in this study were the brain-derived neurotrophic factor (BDNF) which controls body weight and energy homeostasis along with the regulation of neurotransmitters that are often altered in psychiatric disorders. Mutations in this gene and its controlling receptor melanocortin 4 receptor (MC4R), demonstrated that these mutations are associated with disinhibition and emotional eating. While this study did not demonstrate a notable link in the population, it remains an interesting gene to research further. Additionally, “Growth Regulator 1 mutations showed a central region of the gene whose variability strongly correlated with worse symptomatology of bulimia—enhanced personality traits such as drive for thinness, ineffectiveness, and interoceptive awareness.”

Researchers believe that this data is simply the tip of the iceberg, as many more genes are known to be related to obesity. There would be great value in continuing this work and comprehensively testing the pathways and genes that contribute to ED.


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