Disease phenotype and genotype review
Type 2 Diabetes
Disease phenotype and genotype
Although several major risk factors (particularly obesity/overweightness) have been identified for diabetes mellitus type 2â€™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 diseaseâ€™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 patientsâ€™ 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 insulinâ€™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 individualâ€™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:
Â· TCF7L2: This gene impacts the generation of insulin and the production of glucose
Â· ABCC8: This is responsible for aiding in the insulin regulation process
Â· CAPN10: This gene is linked to susceptibility to diabetes mellitus type 2 among Mexican-Americans
Â· GCGR: This is a glucagon hormone that takes part in the function of glucose regulation
Â· GLUT2: This gene facilitates glucose movement into a personâ€™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 T2Dâ€™s genetic foundation to be extremely complex, one can likely consider a lone intermediate phenotype or risk factorâ€™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 â€˜immatureâ€™, 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 individualâ€™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 individualâ€™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 oneâ€™s lifestyle-related risk factors such as food habits, weight and physical exercise. Such modifications within oneâ€™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 oneâ€™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 electrÃ³nico]. Estados Unidos: Humana Press.
Lindsay, R. S. (2003). Is Type 2 Diabetes the Result of a â€œThrifty Genotypeâ€ or a â€œThrifty Phenotypeâ€? 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), 92â€“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
Get Professional Assignment Help Cheaply
Are you busy and do not have time to handle your assignment? Are you scared that your paper will not make the grade? Do you have responsibilities that may hinder you from turning in your assignment on time? Are you tired and can barely handle your assignment? Are your grades inconsistent?
Whichever your reason is, it is valid! You can get professional academic help from our service at affordable rates. We have a team of professional academic writers who can handle all your assignments.
Why Choose Our Academic Writing Service?
- Plagiarism free papers
- Timely delivery
- Any deadline
- Skilled, Experienced Native English Writers
- Subject-relevant academic writer
- Adherence to paper instructions
- Ability to tackle bulk assignments
- Reasonable prices
- 24/7 Customer Support
- Get superb grades consistently
Online Academic Help With Different Subjects
Students barely have time to read. We got you! Have your literature essay or book review written without having the hassle of reading the book. You can get your literature paper custom-written for you by our literature specialists.
Do you struggle with finance? No need to torture yourself if finance is not your cup of tea. You can order your finance paper from our academic writing service and get 100% original work from competent finance experts.
While psychology may be an interesting subject, you may lack sufficient time to handle your assignments. Don’t despair; by using our academic writing service, you can be assured of perfect grades. Moreover, your grades will be consistent.
Engineering is quite a demanding subject. Students face a lot of pressure and barely have enough time to do what they love to do. Our academic writing service got you covered! Our engineering specialists follow the paper instructions and ensure timely delivery of the paper.
In the nursing course, you may have difficulties with literature reviews, annotated bibliographies, critical essays, and other assignments. Our nursing assignment writers will offer you professional nursing paper help at low prices.
Truth be told, sociology papers can be quite exhausting. Our academic writing service relieves you of fatigue, pressure, and stress. You can relax and have peace of mind as our academic writers handle your sociology assignment.
We take pride in having some of the best business writers in the industry. Our business writers have a lot of experience in the field. They are reliable, and you can be assured of a high-grade paper. They are able to handle business papers of any subject, length, deadline, and difficulty!
We boast of having some of the most experienced statistics experts in the industry. Our statistics experts have diverse skills, expertise, and knowledge to handle any kind of assignment. They have access to all kinds of software to get your assignment done.
Writing a law essay may prove to be an insurmountable obstacle, especially when you need to know the peculiarities of the legislative framework. Take advantage of our top-notch law specialists and get superb grades and 100% satisfaction.
What discipline/subjects do you deal in?
We have highlighted some of the most popular subjects we handle above. Those are just a tip of the iceberg. We deal in all academic disciplines since our writers are as diverse. They have been drawn from across all disciplines, and orders are assigned to those writers believed to be the best in the field. In a nutshell, there is no task we cannot handle; all you need to do is place your order with us. As long as your instructions are clear, just trust we shall deliver irrespective of the discipline.
Are your writers competent enough to handle my paper?
Our essay writers are graduates with bachelor's, masters, Ph.D., and doctorate degrees in various subjects. The minimum requirement to be an essay writer with our essay writing service is to have a college degree. All our academic writers have a minimum of two years of academic writing. We have a stringent recruitment process to ensure that we get only the most competent essay writers in the industry. We also ensure that the writers are handsomely compensated for their value. The majority of our writers are native English speakers. As such, the fluency of language and grammar is impeccable.
What if I don’t like the paper?
There is a very low likelihood that you won’t like the paper.
- When assigning your order, we match the paper’s discipline with the writer’s field/specialization. Since all our writers are graduates, we match the paper’s subject with the field the writer studied. For instance, if it’s a nursing paper, only a nursing graduate and writer will handle it. Furthermore, all our writers have academic writing experience and top-notch research skills.
- We have a quality assurance that reviews the paper before it gets to you. As such, we ensure that you get a paper that meets the required standard and will most definitely make the grade.
In the event that you don’t like your paper:
- The writer will revise the paper up to your pleasing. You have unlimited revisions. You simply need to highlight what specifically you don’t like about the paper, and the writer will make the amendments. The paper will be revised until you are satisfied. Revisions are free of charge
- We will have a different writer write the paper from scratch.
- Last resort, if the above does not work, we will refund your money.
Will the professor find out I didn’t write the paper myself?
Not at all. All papers are written from scratch. There is no way your tutor or instructor will realize that you did not write the paper yourself. In fact, we recommend using our assignment help services for consistent results.
What if the paper is plagiarized?
We check all papers for plagiarism before we submit them. We use powerful plagiarism checking software such as SafeAssign, LopesWrite, and Turnitin. We also upload the plagiarism report so that you can review it. We understand that plagiarism is academic suicide. We would not take the risk of submitting plagiarized work and jeopardize your academic journey. Furthermore, we do not sell or use prewritten papers, and each paper is written from scratch.
When will I get my paper?
You determine when you get the paper by setting the deadline when placing the order. All papers are delivered within the deadline. We are well aware that we operate in a time-sensitive industry. As such, we have laid out strategies to ensure that the client receives the paper on time and they never miss the deadline. We understand that papers that are submitted late have some points deducted. We do not want you to miss any points due to late submission. We work on beating deadlines by huge margins in order to ensure that you have ample time to review the paper before you submit it.
Will anyone find out that I used your services?
We have a privacy and confidentiality policy that guides our work. We NEVER share any customer information with third parties. Noone will ever know that you used our assignment help services. It’s only between you and us. We are bound by our policies to protect the customer’s identity and information. All your information, such as your names, phone number, email, order information, and so on, are protected. We have robust security systems that ensure that your data is protected. Hacking our systems is close to impossible, and it has never happened.
How our Assignment Help Service Works
1. Place an order
You fill all the paper instructions in the order form. Make sure you include all the helpful materials so that our academic writers can deliver the perfect paper. It will also help to eliminate unnecessary revisions.
2. Pay for the order
Proceed to pay for the paper so that it can be assigned to one of our expert academic writers. The paper subject is matched with the writer’s area of specialization.
3. Track the progress
You communicate with the writer and know about the progress of the paper. The client can ask the writer for drafts of the paper. The client can upload extra material and include additional instructions from the lecturer. Receive a paper.
4. Download the paper
The paper is sent to your email and uploaded to your personal account. You also get a plagiarism report attached to your paper.
PLACE THIS ORDER OR A SIMILAR ORDER WITH US TODAY AND GET A PERFECT SCORE!!!