1. Introduction – monogenic diabetes results from mutations in a single gene. 20 genes have been linked to monogenic diabetes. A mutation in any one of these gene can cause a child or adult to develop monogenic diabetes. If an individual has a mutated gene then this mutation may be passed from parents to their children or may spontaneously occur in an individual. there are two main forms of monogenic diabetes –
1. MODY (Maturity onset diabetes of the young) – most commonly caused by mutations in two genes- GCK gene and HNF1A gene.HNF1A genes encoding the enzyme glucokinase (GCK is a key regulatory enzyme in the beta cell, and also called as pancreatic glucose sensor). HNF1A gene encodes the nuclear transcription factors hepatocyte nuclear
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Isoforms of HNF1A and HNF4A do have an ability to moderate MODY phenotype-
RNA processing helps to generate isoforms of many genes, these isoforms are basically mRNA that are derived from the same locus but they are different in their transcription start site, protein coding DNA sequence. Regulated expression of these isoforms have a functional role, particularly in those tissues with high expression (for example the pancreas). mutations that affect only certain isoforms of HNF1A lead to different influences on beta-cell dysfunction and diabetic phenotype.
RNA processing helps us to determine the age of patients with clinical symptoms. In HNF1A gene , we can directly relate mutation position to the age of patient like Patients with a mutation in exon 9 or 10 of HNF4A present at a median age of 40. And if mutation is in exons 2–8, that affects all isoforms median age of onset for patients is 28.
2. RNA Processing helps us in discovering new areas to screen for mutations
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With the understanding of surveillance pathway we can explain mechanism causing the disease :-
MODY is a disease, where only one allele is mutated, it had been proposed that the clinical phenotype of MODY be caused by two reasons. First one is by haploinsufficiency and second one is by a dominant-negative effect of the mutated protein upon the wild-type protein.
MODY is most likely a disease of haploinsufficiency. Clues for this haploinsufficiency came from the patients with similar phenotype HNF1A MODY due to loss-of-function mutations (for example promoter or dimerization domain mutations). Furthermore the demonstration that NMD results in the destruction of several transcripts having PTCs, and because of NMD sometime whole gene gets deleted and this whole HNF1A gene deletions may cause MODY, RCAD caused by HNF1B mutations is also likely to be a disease of haplo insufficiency as whole gene deletions of HNF1B have been documented.
In a diabetic family with an IPF-1 frame shift mutation a protein has been shown to be generated as a result of translation re initiation. And this translation re initiation was shown to exert a dominant-negative effect on the activation of transcription by the wild-type protein. Despite
Case study: Carol is 17 years old and was diagnosed with Type 1 diabetes at the age of 7 years. Carol has had a recent hospital admission for dehydration and high blood glucose. During the admission Carol was found to be 6 weeks pregnant. Prior to the admission she had been experiencing weight loss and changes in mood.
According WebMD 2014. Diabetes mellitus (or diabetes) is a chronic, lifelong condition that affects your body's ability to use the energy found in food. There are three major types of diabetes. Type 1 diabetes mellitus, type 2 diabetes mellitus and gestational diabetes. It is a hormonal disorder of the pancreas either decrease in insulin level also known as hypoinsulinism or increase in insulin level also known as hyperinsulinism. Lowered amounts, insufficient of, or ineffective use of insulin leads to the disorder of diabetes mellitus. It is common chronic disease requiring lifelong behavioral and lifestyle changes. According to Peakman (2012). The development of type 1 diabetes mellitus is a genetic and an autoimmune process that results in destruction of the beta cells of the pancreas, leading to absolute insulin deficiency. There is usually a pre-diabetic phase where autoimmunity has already developed but with no clinically apparent insulin dependency. Insulin autoantibodies can be detected in genetically predisposed individuals as early as 6-12 months of age. In persons genetically susceptible to type 1 diabetes, a triggering event, possibly a viral infection the leads to production of autoantibodies that kill the beta cells and results in decline and a lack of insulin secretion. According to Wherrett. It is caused by impaired insulin secretion and insulin resistance and has a gradual onset. Those with type 2 diabetes may eventually need insulin treatment. Gestational diabetes mellitus is glucose intolerance during pregnancy in a woman not previously diagnosed with diabetes, this may occur if placental hormones counteract insulin, causing insulin intolerance. Complications in diabetes mellitus includes: Hypoglycemia it is ca...
-Also known as insulin-dependent diabetes (Morahan). Classified as a chronic condition in which the pancreas produces very little insulin. Insulin is responsible for allowing glucose to enter into the cells (Type 1 Diabetes: Diseases and Conditions). Without insulin, cells are not able to take in the necessary glucose. This usually occurs when the body’s immune system begins to destroy the insulin-producing islet cells in the pancreas.
The pathophysiology of diabetes mellitus in is related to the insulin hormone. Insulin is secreted by cells in the pancreas and is responsible for regulating the level of glucose in the bloodstream. It also aids the body in breaking down the glucose to be used as energy. When someone suffers from diabetes, however, the body does not break down the glucose in the blood as a result of abnormal insulin metabolism. When there are elevated levels of glucose in the blood, it is known as hyperglycemia. If the levels continue to remain high over an extended period of time, damage can be done to the kidneys, cardiovascular systems; you can get eye disorders, or even cause nerve damage. When the glucose levels are low in one’s body, it is called hypoglycemia. A person begins to feel very jittery, and possibly dizzy. If that occurs over a period of time, the person can possibly faint. Diabetes mellitus occurs in three different forms - type 1, type 2, and gestational.
Diabetes is a chronic disorder of metabolism characterized by a partial or complete deficiency of the hormone insulin. With this, there are metabolic adjustments that occur everywhere in the body. Specific to this child is Type One Diabetes. This is characterized by demolition of the pancreatic beta cells, which produce insulin. Because of this, it leads to complete insulin deficiency. Within Type One diabetes, there are two different forms. First there is immune-mediated deficiency, which typically results from an autoimmune destruction of the beta cells. The second type is called idiopathic type one, in which the cause is unknown. (Wong, Hockenberry, Wilson, 2015)
In the beginning of this process the pancreas makes extra insulin to make up for the “insulin resistance.” But over time your pancreas is not about to make enough insulin to keep you blood glucose levels normal. 14Exactly how Type 2 diabetes occurs is unknown to scientists but they have found that genetics and lifestyle play a role in it. Genetics, although your parents may have this disease it doesn’t necessarily mean you’ll get it for sure but it does raise the likelihood.
Although there has been some work into the genetic basis of polydactyly, advances in examination of the human genome may create a better understanding of the condition in the future. A large amount of the work done so far has been focused on animal models, and there is still room for further work to discover the genetic basis of the different types of polydactyly in humans.
From generation to generation diabetes has continued to claim lives on my mothers side of the family. From recent memory my great grandmother, aunt, and three cousins have had diabetes. Once a trait like diabetes enters your family it is passed down through genetics but it is also not guaranteed that all your family members will get it. You may be asking yourself what exactly diabetes is, what it does to your body and is their a cure? This disease affects us in many ways than one, as I will introduce to you.
Diabetes refers to a set of several different diseases. It is a serious health problem throughout the world and fourth leading cause of death by disease in the country. All types of diabetes result in too much sugar, or glucos in the blood. To understand why this happens it would helpful if we understand how the body usually works. When we eat, our body breaks down the food into simpler forms such as glucose. The glucose goes into the bloodstream, where it then travels to all the cells in your body. The cells use the glucose for energy. Insulin, a hormone made by the pancreas, helps move the glucose from bloodstream to the cells. The pathophysiology of diabetes mellitus further explains the concept on how this disease works. Pancreas plays an important role of the metabolism of glucose by means of secreting the hormones insulin and glucagon. These hormones where then secreted by Islets of Langerhans directly to the blood. Inadequate secretion of insulin results on impaired metabolism of glucose, carbohydrates, proteins and fats which then result to hyperglycemia and glycosuria. Hyperglycemia is the most frequently observed sign of diabetes and is considered the etiologic source of diabetic complications both in the body and in the eye. On the other hand, glucagon is the hormone that opposes the act of insulin. It is secreted when blood glucose levels fall.
Type 1 diabetes, is an incurable but treatable disease which can occur at any age but is mostly found in children due to the high levels of glucose in the blood (Eckman 2011). Juvenile diabetes affects about 1 in every 400-600 children and more than 13,000 are diagnosed yearly (Couch 2008). Type 1 Diabetes means your blood glucose, or blood sugar, is too high. With Type 1 diabetes, your pancreas does not make insulin. Insulin is a hormone, which helps glucose gets into your cells to provide energy. Without insulin, too much glucose stays in your blood. Over time, high blood glucose can lead to serious problems with your heart, eyes, kidneys, nerves, gums and teeth (American Diabetes Association). Previous research has suggested proper insulin management, a balanced diet and exercise will help maintain glycemic control and lessen the chance of complications (Couch 2008).
Almost everyone knows someone who has diabetes. Studies show that diabetes affects 23.6 million people-7.8 percent of the U.S. population. Being diagnosed with diabetes may cause changes in some people’s lives. You can never just look at a diabetic and understand the things that they go through on a daily basis. A question you may ask yourself is, “What is the life of a diabetic like?”
Experience plays an immense role in presenting the desolation that age and education has on one's capacity to remember. Individuals compare and contrast the correlation between these two variables; for example, the greater ones age the less recollection they seem to have. However, Psychologists Agneta Herlitz and Jenny Rehnman challenged this case by presenting a similar a preposition comparing two opposite variables: Does one’s sex affect his or her ability to remember day to day events? The interconnection between sex and memory is surprisingly a controversial topic. According to the research they provide, an individual’s sex does, indeed, play an immense role in commemorating the affairs that arise day to day.
On my mother’s side of the family Type-1 diabetes is prevalent and it isn’t entirely considered an inherited disease, but it has been proven to have some genetic factors that can be passed down. Diabetes is becoming an increasing problem in the United States with half of all Americans becoming either diabetic or pre-diabetic.
Campbell N. A., Reece L. A., Cain M. L., Wasserman S. A., Minorsky P. V. and Jackson R. B. (2008). Regulation of Gene Expression
Most diseases are caused by a type of genetic component. Many of the diseases that have been caused by gene mutations are undiagnosed. These remain undiagnosed because the disease is so rare that the doctor does not know how to diagnose the patient. Many sy...