Disease phenotype and genotype review

Type 2 Diabetes

Disease phenotype and genotype

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Although several major risk factors (particularly obesity/overweightness) have been identified for diabetes mellitus type 2’s (T2D) development, not much information is available on its etiology. Environmental as well as genetic elements play a central role, with disease risk probably a reflection of a multifaceted relationship between the two. Specific T2D epidemiology elements, the extensive susceptibility to it, growth in susceptibility among individuals of particular ethnicities, and the more recent well-defined linkage between disease risk and low weight at birth have triggered multiple theories. Such theories strive towards explaining the disease’s abovementioned key epidemiological facets, in addition to broadening insights into its etiology. A common theme in the thrifty phenotype and genotype theories is the idea that T2D susceptibility might point towards prior nutritional conditions. The latter theory holds that patients’ nutritional history supports genetic polymorphisms that increase likelihood of disease diagnosis. On the other hand, the former theory posits that early adverse nutritional situations may make people vulnerable in later life (Lindsay, 2003).

The pathophysiological processes of the disease

T2D is characterized by various intracellular insulin activity-related deficits; of these, the most prominent one is reduced insulin receptor activation through tyrosine phosphorylation stimulation. This accounts for endogenous insulin’s reduced capacity when it comes to increasing tissue glucose acceptance (especially within muscles) and suppressing hepatic glucose production for the postprandial plasma glucose increases (which is a common phenomenon among diabetics).

Free adipose cell-secreted fatty acids that are produced on account of enhanced lipolysis can aggravate insulin resistance as well, via the inhibition of phosphorylation and glucose transport, decreased glycogen production and glucose oxidation rates, greater secretion of apolipoprotein B and a growth in hepatic lipase activity. Persistently enhanced levels of free fatty acids prevent beta cells from secreting insulin and tend to lower liver and muscle insulin sensitivity (Codario, 2011).

Genetic predispositions and genetic tendencies

Environmental as well as genetic determinants trigger T2D development. Scholars have discovered a linkage between numerous gene mutations and increased susceptibility to diabetes. While not every individual with a mutation develops the disease, within several diabetics, at least one mutation does exist. Differentiating between environmental and genetic risk may be challenging. Environmental risk is usually shaped by an individual’s household. For instance, a household that upholds healthful eating practices will probably pass such practices on to their children. Meanwhile, genetics contributes substantially to deciding weight and one cannot ascribe diabetes susceptibility solely to behavior (Winter, 2016).

Research into twins indicates a potential relationship between genetics and T2D. Up to now, many mutations demonstrate impacts on T2D susceptibility. Individual genes normally play a small role. But added individual mutations in an individual elevate risks. Generally, genetic mutations within genes that participate in the function of controlling body glucose (e.g., genes controlling glucose synthesis, insulin secretion and regulation, sensing of body glucose levels, etc.) may exacerbate T2D diagnosis vulnerability. T2D-connected genes include:

· TCF7L2: This gene impacts the generation of insulin and the production of glucose

· ABCC8: This is responsible for aiding in the insulin regulation process

· CAPN10: This gene is linked to susceptibility to diabetes mellitus type 2 among Mexican-Americans

· GCGR: This is a glucagon hormone that takes part in the function of glucose regulation

· GLUT2: This gene facilitates glucose movement into a person’s pancreas (Winter, 2016)

Any patterns of inheritance

Diabetes mellitus type 2 lacks an explicit inheritance pattern; however, several people diagnosed with the condition come with a family history of diabetes. Susceptibility to T2D development aggravates as more family members develop the disease. Though this growth in vulnerability is perhaps, partly, on account of common genetic elements, family lifestyle influences (for instance, exercise habits and diet) may also play a part (US National Library of Medicine, n.d).

The underlying genetic basis of the disease phenotype

Were one to consider T2D’s genetic foundation to be extremely complex, one can likely consider a lone intermediate phenotype or risk factor’s complexity to be lesser. Independent of the element of obesity, T2D may be predicted through insulin release impairment and growth in insulin resistance combined (Baier & Hanson, 2004).

Genetic mutation that results in production of an abnormal protein

Diabetes may occur due to missense insulin gene mutations which result in structurally abnormal insulin generation with defective receptor binding and decreased biological activity. Thus far, researchers have been able to isolate a total of three separate mutant insulins. Their receptor binding and biological activity is drastically reduced, thereby leading to an extension of their half-lives (Nishi & Nanjo, 2011).

Brief summary of any current research related to the disease

Researchers in the field have discovered a novel mechanism that underlies the decreased production of insulin among patients suffering from T2D. Reports explain the way insulin-generating cells undergo a developmental regression, become what researchers call ‘immature’, and ultimately fail to work effectively. This finding opens avenues to innovative clinical action (University of Gothenburg, 2017).

Racial or ethnic predispositions that are related to the disease

Although all individuals are susceptible to T2D development, susceptibility levels may be impacted by an individual’s ethnic group. For instance, in the US, as compared to Caucasians, individuals belonging to the Hispanic, Asian, Indian American, Pacific Islander, or African-American ethnic groups exhibit an excessively higher T2D development risk (Orenstein, 2015).

The risk of developing the disease

An individual’s likelihood of being diagnosed with diabetes mellitus type 2 is contingent on several risk factors combined, including lifestyle and genetic makeup. Certain risk factors like ethnic background, family history or age may not be altered, but it is possible to alleviate one’s lifestyle-related risk factors such as food habits, weight and physical exercise. Such modifications within one’s lifestyle may decrease T2D development risks or, at least, delay disease onset (The National Institute of Diabetes and Digestive and Kidney Diseases, 2016).

Interdisciplinary management plan of the disease

The complex ailment known as diabetes necessitates considerable efforts when it comes to its management, on the part of care providers as well as the patient him/herself. Efficient real-world interdisciplinary unit models provide best practice examples, in addition to effectual frameworks which practitioners may be able to apply to the delivery of novel solutions to team-based disease management challenges. The aforementioned strategy may prove to be successful in the delivery of patient care in case of T2D and other chronic ailments, which necessitate drastic changes to one’s lifestyle as well as self-management. T2D complexity and multiple related comorbidities give rise to various distinct challenges which might prove tough to deal with by individual clinicians. An integrated care unit approach has been found to be linked to better glycemic control (McGill et al. 2017).

Recommendations of the disease based on current standards of care

The Global Partnership for Effective Diabetes Management, in the year 2007, suggested the adoption of interdisciplinary teams for managing T2D. According to this body, such a strategy is one of ten feasible steps healthcare providers may adopt to facilitate glycemic goal achievement by diabetics (McGill et al. 2017). The chronic, complex ailment necessitates constant medical attention; its complex risk alleviation tactics need to go beyond mere glycemic control. Continual patient education, assistance and self-management prove vital to the prevention of major complications and reduction of long-term complication risks. Substantial proofs may be found in support of various interventions aimed at diabetes outcome improvement (Marathe, Gao & Close, 2017).







Baier, L. J., & Hanson, R. L. (2004). Genetic studies of the etiology of type 2 diabetes in Pima Indians. Diabetes, 53(5), 1181-1186.

Codario, R. A. (2011). Type 2 Diabetes, Pre-Diabetes, and the Metabolic Syndrome [recurso electrónico]. Estados Unidos: Humana Press.

Lindsay, R. S. (2003). Is Type 2 Diabetes the Result of a “Thrifty Genotype” or a “Thrifty Phenotype”? International Textbook of Diabetes Mellitus.

Marathe, P. H., Gao, H. X., & Close, K. L. (2017). American Diabetes Association standards of medical care in diabetes 2017. Journal of diabetes, 9(4), 320-324.

McGill, M., Blonde, L., Chan, J. C., Khunti, K., Lavalle, F. J., & Bailey, C. J. (2017). The interdisciplinary team in type 2 diabetes management: Challenges and best practice solutions from real-world scenarios. Journal of Clinical & Translational Endocrinology, 7, 21-27.

Nishi, M., & Nanjo, K. (2011). Insulin gene mutations and diabetes. Journal of Diabetes Investigation, 2(2), 92–100. http://doi.org/10.1111/j.2040-1124.2011.00100.x

Orenstein, B. W. (2015, September 18). How Ethnicity Affects Type 2 Diabetes Risk. Retrieved November 21, 2017, from https://www.everydayhealth.com/hs/type-2-diabetes-management/ethnicity-diabetes-risk/

The National Institute of Diabetes and Digestive and Kidney Diseases. (2016). Risk Factors for Type 2 Diabetes. Retrieved November 21, 2017, from https://www.niddk.nih.gov/health-information/diabetes/overview/risk-factors-type-2-diabetes

University of Gothenburg. (2017, June 6). Newly discovered disease mechanism for type 2 diabetes. ScienceDaily. Retrieved November 21, 2017 from www.sciencedaily.com/releases/2017/06/170606112756.htm

US National Library of Medicine. (n.d.). Type 2 diabetes – Genetics Home Reference. Retrieved November 21, 2017, from https://ghr.nlm.nih.gov/condition/type-2-diabetes#

Winter, S. (2016, November 21). Is Type 2 Diabetes Caused by Genetics? Retrieved November 21, 2017, from https://www.healthline.com/health/type-2-diabetes/genetics#genes3


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