Amber L. Ross
Professor Kevin Rutherford
How would you like to know that eating the chocolate cake on your birthday or having that big bowl of pasta could literally kill you? For the more than 220 million people worldwide who have diabetes this is the reality they live with daily. (World Health Organization 2009) This paper will inform you on the genetic and metabolic components of type 2 diabetes, as well as symptoms, diagnosis, treatments and economic factors associated with the disease. There has long been a common misconception in the general public that Type 2 diabetes also known as adult on set diabetes has only come from being over weight. Although obesity can be a contributing factor we now have scientific information showing the genetic link beyond just lifestyle influences. It has long been known that type 2 diabetes ran in families and there for had heritability. New research indicates it is autosomal dominat and their are four novel loci associated with type 2 diabetes mellitus, SLC30A8 gene, TCF7L2 gene, a gene that encodes for an insulin-degrading enzyme (IDE), the homeodomain protein HHEX, which is essential for hepatic and pancreatic development, and a kinesin-interacting factor, KIF11. More research is needed to discover the full implicates of the KIF11 and HHEX genes. (Patis, 2007). The most interesting of the variants so far is in the TCF7L2 gene. Using high-density genotyping arrays a two stage approach began to try and identify other variants. The first round of testing was limited to those with normal BMI’s but with affected relatives, thus eliminating the obesity related risk alleles. Of the 392,935 single-nucleotide polymorphism (or SNP’s) tested 59 SNP’s showed a strong association for the disease. The second round of testing relaxed the inclusion criteria to maximize the detection of an association but still focused in on the SNP’s with the greatest risk. After both rounds of testing eight SNPs identifying five loci were found as risk variants, one being the known TCF7L2 factor. Of the newly discovered genes the most significant seemed to be the SLC30A8 gene. It encodes on a zinc transporter which that is expressed only in beta cells their for likely linked to insulin production. Although to little is known at this time to consider any type of gene therapy with greater understand will come greater possibilities of curing and treating this disorder (Patis, 2007). Metabolically Diabetes Mellitus is a multisystem disease. It is a chronic disease of carbohydrate, fat, and protein metabolism caused by the lack of insulin. In most cases this is cause by the progressive inability of the pancreas to secrete insulin because of autoimmune destruction of the beta cells (Khardori, 2011). Until recently type 2 diabetes was only seen in adults but, it is now being seen in children. The initial presenting symptoms can vary considerably from mild symptoms to diabetic ketoacidosis (DKA) and shock. (Kumar & Kaplowitz, 2009). The most common signs and symptoms of diabetes include, in an unquenchable thirst, frequent urination, weight loss without a change in diet or exercise, weakness or fatigue. (Manzella, 2010).
These are the classic symptoms of diabetes that send most people to their physician seeking help. Testing to determine type 2 diabetes is a blood test called hemoglobin A1C. The test will show your average blood sugar level for the past 2 to 3 months. Because this give the physician an over all view of your blood sugar for the past several months it has become the preferred test to a fasting glucose test. The A1C test indicates what percentage of your hemoglobin or red blood cells are coated in sugar, or glycate. An A1C of 6.0 or less is normal for a non diabetic. The A1C test is not only important for diagnosing Diabetes but also for managing ones diabetes. The higher your blood sugar level the poorer the control. The less controlled...