Diabetes as Genetic Disease

Type ll Diabetes, scientifically referred to as Diabetes Mellitus, noninsulin-dependent 1, is a disease that is caused due to a mutation in a person’s gene called CAPN10. A person with type ll diabetes has a defect where their blood sugar, or glucose levels, is unusually higher than a normal and healthy level is perceived to be. In other words, they cannot process a higher sugar intake as easily as the average person, and most times need to watch their glucose levels to make sure they are kept under control. Those with type ll diabetes can expect to experience certain side effects including fatigue, thirst, excessive urination (especially at night), blurry vision, hunger, and sores, according to Diana K. Wells of Healthline media. Type ll diabetes is more commonly found in people over the age of 45, however they are at greater risk to acquire this genetic disease at a younger age if they are overweight, have family history of diabetes, or have high blood pressure or cholesterol levels. In order to prevent from developing type ll diabetes, it is important to keep a healthy weight by dieting and exercising. As time goes on, Type ll diabetes unfortunately has the potential to grow progressively worse. “For whatever reason, the function of beta cells worsens over time,” says Ravi Retnakaran, MD, an endocrinologist at the Lunenfeld-Tanenbaum Research Institute at Toronto’s Mount Sinai Hospital. He explains in an article from the American Diabetes Association that the muscles of the body desensitize to the amount of insulin being released by beta cells, ultimately calling for the beta cells to release a steady increase in insulin in order for the body’s muscles to recognize it. This ultimately calls for progressively stronger medication as you grow older. The “Online Mendelian Inheritance of Man” database determines Mexican-Americans, German, and Finnish populations to be the most susceptible to inheriting type ll diabetes. A study carried out and medically reviewed by Peggy Pletcher of Healthline Media, states, “29.1 million people in the US have diabetes, but 8.1 million may be undiagnosed and unaware of their condition.” In order to inherit type ll diabetes, one must have undergone a genetic mutation within an SNP on a certain spot in their chromosome. The gene with the genetic mutation specific to diabetes is called the CAPN10 gene, which includes the three SNP mutations: SNP19, rs3842570; SNP43, rs3792267; and SNP63, rs5030952. (Online Mendelian Inheritance of Man database). SNP19 will have undergone a deletion or insertion mutation regarding a strand with the following nucleotide strand: CGGGAGGAGGGTGATGATTCTGTCCCAGGAGC. Either the insertion or deletion of this intron sequence can cause mutation that will lead to diabetes. This mutation takes place on chromosome 2 between 240594876 and 240594877. SNP43 genetically mutates on chromosome 2:240591757; a point mutation that transcribes from a guanine nucleotide to an adenine nucleotide, when it should ideally have transcribed to a cytosine nucleotide. SNP43 is also located on an intron. SNP63, also located on an intron variant within chromosome 2:240603286, experiences a point mutation mistakenly copying a cytosine nucleotide to a thymine nucleotide, when in fact the correct transcription would provide the DNA strand with a guanine nucleotide. Diabetes is a polygenetic disorder, and is influenced not only by genetic mutation, but also exterior environmental factors as well. Overexposure to glucose can increase one’s probability to lose their ability to process said glucose. In other words, consuming too much sugar can inflate the likelihood of developing diabetes. Early life environment has a large impact on a person’s probability of acquiring genetic diseases. For example, It has been determined that early introduction to both malnourishment and/or obesity can both increase chances of type ll diabetes. Furthermore, breastfeeding in the first two months of life can greatly lower risk for a future diagnostic of type ll diabetes. (Robert S. Lindsey from the British Medical Bulletin). The CAPN10 gene, where the three SNP’s of interest are located, directly affects the phenotype of the genetic disease in two ways: one way being, it decreases the efficiency of which insulin is produced within the body. The second way being, it decreases the capability of various muscles (such as pancreatic islets, muscle and liver) to respond to the creation of insulin (if enough if being created). Therefore, insulin is poorly produced, and if it is produced, it is not being processed by the necessary organs. (“Genetic variation in the gene encoding calpain-10 is associated with type 2 diabetes mellitus”, by Nature Genetics). The American Diabetes Association mentions several different techniques for treatment. While there are medicines to help the processing of insulin in the body, these dosages may increase as time goes on as your body becomes accustomed to the strength of the prescription. Keeping a healthy and balanced lifestyle such as exercising and eating healthy is always smart, and keeping track of the sugar intake your body consumes every day is imperative. Nevertheless, the most beneficial measures to be taken to reduce the risk of diabetes are preventative ones. There are many things you can do in your early life to prevent the acquisition of type ll diabetes. These actions include maintaining a low sugar level diet, exercising and leading an active and vigorous lifestyle. In terms of evolution, diabetes is a curious genetic disease to study, because it should have been eliminated by now due to natural selection, which favors the advantageous, or those without diabetes. The fact of the matter suggests that, in the past, diabetes was actually advantageous to the health of our ancestors whose limited diets’ benefitted from the inability to produce and process insulin. Naturally, these traits were passed on. Now, however, even though diabetes is a disadvantage to those who have it, modern medicine has allowed for these genetics to be passed on because the side effects don’t really persist until after age 45: later than the average age to have children. Conclusively, it does not look like diabetes will be curbed in the near future. It is a genetic disease that can be assumed will last for many generations to come. This is why it is important to live a healthy lifestyle, especially in early years, to lower the risk of acquiring the genetic disease that is diabetes.

Works Cited

Curry, Andrew. "Type 2 Diabetes Progression." Diabetes Forecast. American Diabetes Association, Sept. 2015. Web. 01 Mar. 2017.

Lindsay, Robert S., and Peter H. Bennett. "Type 2 Diabetes, the Thrifty Phenotype – an Overview." British Medical Bulletin. Oxford University Press, 01 Nov. 2001. Web. 01 Mar. 2017.

McKusick, Victor A. "CALPAIN10; CAPN10." Online Mendelian Inheritance in Man.

Ed. John A. Phillips. John Hopkins University, 25 Sept. 2000. Web. 1 Mar. 2017. "Reference SNP (refSNP) Cluster Report: Rs3842570 **Clinical Channel**." National Center for Biotechnology Information. U.S. National Library of Medicine, 12 Aug. 2002. Web. 01 Mar. 2017.

Santos-Longhurst, Adrienne. "Type 2 Diabetes Statistics and Facts." Healthline. Ed.

Peggy Letcher. Healthline Media, 27 Feb. 2017. Web. 01 Mar. 2017. "Treatment & Care." American Diabetes Association. N.p., n.d. Web. 01 Mar. 2017.

Wells, Diana K. "Recognizing Type 2 Diabetes Symptoms." Healthline. Ed.

Mark R. Laflamme. Healthline Media, 2 Feb. 2016. Web. 01 Mar. 2017.

Wood, Matt. "How Type 2 Diabetes Survived Evolution." Science Life. Wordpress.com, 24 Apr. 2013. Web. 01 Mar. 2017.