Alcoholism In My Family History
Alcoholism. It starts with a sip, then a drink, then a few more. Before you know it the person you thought you knew is spiraling. Their personality is changing, they say things they say they don't mean, they do things that they say they regret, and sometimes do things that they don't remember to regret. Throughout my life I’ve had to deal with having an alcoholic for a grandmother, grandfather, and ex- boyfriend. I’ve always felt like alcoholics have had a weird way of getting into my life.
Sometimes I feel hesitant to let people know about this part of my life because there are other people who have experienced much worse than me. However, I think it can be helpful for me to share my story and learn from it at the same time. I decided to do my genetics topic over the Gammaaminobutyric acid type A receptor beta1 subunit gene (GABRB1) because I’m tired of being angry and not understanding this disease. I don’t know the actual mutations that some of the people in my life have but I think it’s better to start somewhere rather than nowhere.
The National Institute on Alcohol Abuse and Alcoholism defines alcohol use disorder as “AUD is a chronic relapsing brain disease characterized by compulsive alcohol use, loss of control over alcohol intake, and a negative emotional state when not using. ” (Alcohol Use Disorder) AUD can be separated into 3 different levels depending on a person’s symptoms: mild, moderate, or severe. If continuous drinking occurs this can result in brain damage. With proper help from a doctor, treatment can help reverse this effect and also give the patient assistance in AUD recovery. Symptoms of AUD are: having to drink more to get a previous effect, as alcohol wears off withdrawal symptoms begin, and the body experiences cravings for alcohol.
Something that I’ve struggled with is accepting that alcoholism is a nature vs nurture problem. From my experiences I’ve felt like being an alcoholic is a selfish decision. They can see how much their drinking hurts the people who care about them but they choose to do it anyway. However, I know science also backs up genetics as a source for the problem. In our textbook Human Heredity, it describes alcoholism as “likely a complex, genetically influenced, multifactorial disorder. ”(Redfield, 407). Family history has seemed to have a strong influence on alcoholism in individuals. Studies have been done on children who were adopted at birth and had no contact with their alcoholic parents . These individuals were found to be more likely to develop an alcohol problem compared to adopted children who did not have biological alcoholic parents.
Studying twins has also helped with identifying genetic components in alcoholism because of their identical genetic makeup. It has been found that identical twins have similar drinking patterns regardless if they have grown up together, were in similar social situations, or with different drinking environments. Alcoholism is a difficult disease to escape. Goodwin did a study on 55 men who had alcoholic biological parents but were adopted by non alcoholic parents. He followed up with the men when they became adults and found that 18% of the group became alcoholics(BMJ, 1301). Goodwins study was able to identify the relationship between the environment and genetics on drinking behavior.
The GABRB1 gene has been shown to have relation with AUD. Gamma-AminoButyric Acid (GABRB1) is a type of amino acid that acts as an inhibitory neurotransmitter(Thomas, Scot). The way this amino acid works is through a multisubunit chloride channel. This particular channel is known as being the fastest inhibitory synaptic transmission in the entire central nervous system. This gene encodes for GABA and is located on chromosome 4p12 where it has other subunits for the GABA receptor (Anstee et al, 2013). When a person drinks alcohol it causes changes to gamma aminobutyric acid in the brain. These changes result in the person experiencing feelings of relaxation and relief from anxiety or stress. When the person is sober they want to re-experience these feelings and self medicate themselves with alcohol; this is also referred to as the self medication hypothesis (Thomas, Scot).
During our lecture we discussed how experiments have been performed on mice to show alcohol preference. I went on to search for case studies that were related to the GABRB1 gene and I was lucky enough to find one that specifically focused on mutations in this gene. This study created a mouse model that had strong preferences for alcohol due to a mutation in the GABRB1 gene. The mice were set up in different colonies and allowed free choice to drinking water and ethanol. They corrected for taste and general preferences of the alcohol for the mice. At the end of the daily sessions the mice were displaying “drunkeness” and had random ambulatory movement with mild ataxia (Anstee et al,2013). BioEdit software was used to analyze the gene sequence for the mutant mice.
This mutation causes an increase in GABA channel openings which results in GABA sensitivity of the GABA receptors(Anstee et al, 2013). This is also associated with the tonic currents in the nucleus accumbens. This region is known for “alcohol reward”. This study found that there was also a spontaneous mutation in P228H in GABRB1 gene. Similar to the dominant mutation it caused spontaneous GABA channel openings and increased ethanol consumption.
In conclusion, this experiment was able to identify two dominant mutations in the GABRB1 gene. This resulted in a phenotypic change from mice who once averted alcohol to them having a strong heriatable preference for it. The dominant mutation was generated by ENU mutagenesis whereas the P228H was driven by a spontaneous mutation which was identified through gene driven screening (Anstee et al 2013).
AUD can be easily prevented if a person does not drink alcohol. The mutation will not cause any additional side effects. I still feel conflicted about my personal relationships with some of my family members because I know that they can avoid AUD if they stop drinking. However, this knowledge has made me more aware and allowed me to prepare for my own future family.
