Alcoholism and disorders in the human genes

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alcoholism and disorders in the human genes. A lot of diseases have been linked to human gene disorders and research is on-going. The article has five references.

Alcoholism has been recognized as a disease in which there is a desire to consume alcohol. The symptoms of alcoholism include a craving for alcohol, not being able to stop when drinking and consuming large amounts of the substance, exhibition of withdrawal symptoms such as nausea, sweating, shakiness and anxiety when not being able to consume alcohol. The disease is also characterized by development of a tolerance of alcohol so that large quantity of alcohol needs to be consumed in order to get high. [NIAAA. 2002].

It has been recognized that there is a tendency for children to inherit the drinking problems of their parents and therefore alcoholism is a genetically influenced disorder. [NCBI. 2003].

This essay looks at the genetic connection of alcoholism and attempts to answer some questions relating to human genetics and alcoholism.

Analysis

There has been a considerable amount of research done to investigate the link between human genetic disorder and alcoholism. Some factors are indicated as follows:

Genes and genes order

Genes are segments or sections of the DNA that are carried on the chromosomes and determine specific human characteristics like color of the eyes, height, hair type etc. These are located in cells which constitute all living organisms. Each cell contains a substance called deoxyribonucleic acid or the DNA. The DNA inside a cell is wrapped together to form structures called chromosomes. [Nemours 2002].

In a human most cells have 46 chromosomes or two pairs of 23 chromosomes. A human will inherit 23 chromosomes from his father, (the father’s sperm cell) and 23 chromosomes from the mother, (the mother’s egg cell). Male children will receive an X chromosome from their father and a Y chromosome from the mother. A female child will receive X chromosomes from both the parents. There is a pair of genes for a person except for the boys who have some single genes since they receive an X and a Y chromosome from their parents. Some characteristics come from a single gene whereas other properties derive from a pair of genes. Since there are 30,000 genes therefore the possibilities of rearranging them to produce specific characteristics in humans are numerous. [Nemours.

2002].

Gene inheritance

About 4000 diseases can be caused because there is a change in the genetic set up in cells either due to aging or exposure to certain substances including radiation and chemicals. Sometimes an individual can also inherit genes which are associated with a certain disease. This does not mean, however, that a defective gene will certainly cause a disease since an individual is inheriting genes from both the mother and the father. If a dominant number of genes are defective or associated with a disease because both parents had such genes or their combination has produced such a result then the person has an increased susceptibility to the disease especially if the environment is also conducive to the production of the disease. [Nemours. 2002].

The Human Genome project has recently identified each gene in the body but at this point in time scientists have not identified what each and every gene does. Also the results of the interaction of different genes have not yet been identified. Proteins are made up of amino acids and genes are like recipes for proteins. Thus by determining what kind of proteins will be produced genes determine the entire body processes including how the body responds to challenges to the environment.[Genome.Org 2002].

Gene Disorder

Catechol-O-methyltransferase (COMT;

116790) is an enzyme that plays a crucial role in the production of dopamine. It has been suggested in research that a functional genetic polymorphism or genetic disorder in the COMT gene results in 3- to 4- fold change in the enzyme activity and may contribute to mental disorders and alcoholism. [NCBI. 2003].

Researchers have also found a link between the leu7-to-pro polymorphism in the neuropeptide Y (NPY) gene and the chances of an individual developing alcoholism. [NCBI. 2003].

Alcoholism and genetic disorder

Recordings of the neuroelectric activity of the brain called Event-Related Brain Potentials measured by electrodes attached to the scalp and usually in response to some task indicate a reduction in the P3 component of alcoholic subjects. P3 is a positive peak in ERP approximately 300-600ms after a stimulus. The reduction in P3 levels is observed after long periods of abstinence from alcohol and it is also observed in the young naive sons of alcoholics. A similar abnormality was observed with N4 component of ERP. The changes in N4 ERP levels indicate a change in several chromosomal regions while the change in P3 level indicates changes in chromosome 4 and 5. [NCBI. 2003].

Genetic changes in alcohol preferring rats have also been linked to polymorphism in alpha-synuclein gene (SNCA;

163890). [NCBI. 2003].

The organs that are affected due to alcoholism include the heart, (cardiomyopathy) the liver, (cirrhosis) and the pancreas, (pancreatitis). It is however rare for more then one of the organs to be effected. [NCBI. 2003].

Cure for alcoholism

Gene therapy is a relatively new technique for altering genes responsible for specific diseases and thus curing the disease. For Gene therapy to be successful the faulty genes must be identified and replaced by the genes without the defect causing the disease. Either viruses or stem cells can be used to replace the defective genes. Scientists now have the knowledge and the skills to replace the virus’ own genes and replace them with healthy human genes. These altered genes can then be used to smuggle healthy genes into the human cells and replace defective genes. Some of the vectors are capable of not only carrying the healthy genes but also inserting them into human cells. Stem cells are immature cells which can differentiate and develop into cells with different functions. [Centre for Genetic Education. 2002].

At this point in time, however, gene therapy is not sufficiently developed and the linkage of alcoholism to genes is not fully understood to offer some magic treatment of alcoholism in spite of on going research and evidence of linkage of alcoholism with genetic disorder and inheritance. This is also the case with many other diseases which have genetic linkages.

Conclusion

In this paper, alcoholism which is a disease involving craving and addiction to alcohol is looked at from a genetic perspective. It is found that there is evidence to suggest that alcoholism is inherited and there is a genetic linkage. In spite of ongoing research into gene therapy there is at this point in time no magic gene therapy for alcoholism.

References

National Institute on Alcohol Abuse (NIAAA). “FAQ’s on Alcohol Abuse and Alcoholism.” May 14, 2002 at http://www.niaaa.nih.gov/faq/faq.htm

National Center for Biotechnology Information (NCBI). “#103780 Alcoholism.” August 15, 2003 at http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?103780

The Nemours Foundation. “The Basics on Genes and Genetic Disorders.” May 2002 at http://www.kidshealth.org/teen/your_body/health_basics/genes_genetic_disorders_p3.html

Centre for Genetic Education. “Gene Therapy.” May 2002 at http://www.genetics.com.au/Genetics2003/FactSheets/14.asp

Your Genome.org. “What is a genome?” Feb. 28, 2002 at http://www.yourgenome.org/primer/genomes

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