Tuesday, 5 June 2012

Alcoholism - Is it a Genetic Mutation?


                                                                                                                 Mia Thannhauser

Alcohol dependence, also known as alcoholism, is considered medically as a disease. Its symptoms, as listed by the American Association for Clinical Chemistry (2010), include increased tolerance, cravings, loss of control and physical dependence. For decades, sufferers of the disease have not only experienced its harsh physical and psychological effects, but also discrimination and stereotypes created by society. In recent years, however, scientific research has revealed that the likelihood of developing alcoholism is increased by the possession of variations in certain genes (Arbor 2011). When variation occurs in two specific genes, unc-79 and GABRA2, it is thought that it influences alcohol sensitivity (O’brien 2010) and impulsive behaviours (Arbor 2011).

Gene mutations are permanent alterations to sequences of DNA sections of chromosomes (U.S. National Library of Medicine 2012). When mutations occur in genes, it can affect the cell or organism’s ability to function normal, therefore promoting alcoholism in humans.

The gene unc-79 in mice, as well as the human version of the gene, is a poorly understood gene thought to interact with a neuron called NALCN (O’Brien 2010). In studies with mice, the mice that possessed mutated unc-79 genes voluntarily chose alcohol over water when offered the two. The mutant mice also were highly more sensitive to the alcohol. When injected with pure ethanol, the mice blacked out for much longer than the non-mutant mice. These observations in mice are thought to arise from the unc-79 gene mutation, dubbed as Lightweight, altering the neuronal responses to alcohol governed by NALCN (O’Brien 2010).


The GABRA2 gene is responsible for the functioning of receptors in part of the mammalian brain called the insula (Arbor 2011). In a recent study, those with the variant GABRA2 gene demonstrated higher levels of impulsiveness when under distress, with high activation in the insula. This links to the idea humans, particularly females, turn to alcohol to relieve distress and anxiety (Arbor 2011).

Both unc-79 and GABRA2 gene variants are just some of the genes that contribute to the symptoms of alcoholism, but do not directly cause it. However, as alcoholics, their families and researchers attempt to discover its medical foundations, the discoveries of mutations in genes as alcoholism contributors is extremely significant for prevention, treatment and understanding of alcohol dependence.


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