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Is Type 1 Diabetes Dominant Or Recessive

Genetics & Diabetes : What's Your Risk?

Genetics & Diabetes : What's Your Risk?

A school nurse anxiously wants to know if there is a reason why several children from her small grade school have been diagnosed with type 1 (juvenile onset) diabetes. Is it an epidemic? Will there be more cases? Is a recent chicken pox outbreak to blame? A man in his 50s develops type 2 diabetes. His mother developed diabetes in her 60s. Should this man's brother and sister be concerned, too? What about his children's chances of developing diabetes? A married couple wants to have children, but they are concerned because the husband has type 1 diabetes. They wonder what the risk is that their child would have diabetes. A couple has three young children. One of the children develops type 1 diabetes. There's no history of diabetes anywhere in either parent's families. Is this just a fluke? What are the chances the other children will develop diabetes? Chances are if you or a loved one have diabetes, you may wonder if you inherited it from a family member or you may be concerned that you will pass the disease on to your children. Researchers at Joslin Diabetes Center report that, while much has been learned about what genetic factors make one more susceptible to developing diabetes than another, many questions remain to be answered. While some people are more likely to get diabetes than others, and in some ways type 2 (adult onset diabetes) is simpler to track than type 1 (juvenile onset) diabetes, the pattern is not always clear. For more than 20 years researchers in the Epidemiology and Genetics Section at Joslin in Boston (Section Head Andrzej S. Krolewski, M.D., Ph.D., Senior Investigator James H. Warram, M.D., Sc.D., and colleagues) have been studying diabetes incidence and hereditary factors. They are continuing a scientific journey begun by Elliott P. Joslin, M.D., Continue reading >>

Type 1 Diabetes – Is It Genetic?

Type 1 Diabetes – Is It Genetic?

Type 1 Diabetes – is it genetic and can you lead a normal life? Type 1 Diabetes is known by many other names; the most common ones include juvenile diabetes, insulin dependent diabetes and Diabetes Mellitus Type 1. It is one of the autoimmune diseases in which the beta cells of the pancreas, which create an important hormone (called insulin), are destroyed and consequently the pancreas produce little or no insulin at all. The result is that with not enough insulin in the body, the glucose fails to get absorbed in the cells for energy and the blood sugar level rises. There is no cure to Type 1 Diabetes but with proper and disciplined care, the patient can hope to live a long and otherwise healthy life; or else Type 1 Diabetes can prove to be fatal. Diagnostic Symptoms of Type 1 Diabetes Type 1 diabetes usually appears in the patient during the early years; however, it can also develop in adults. As with all other major diseases, certain signs and symptoms will start to show up and these are the indications of Type 1 Diabetes. On the occurrence of these symptoms, it is advisable to consult the doctor. Following are the various symptoms. One of the few and consistent symptoms is frequent urination; also called The patient may experience increased thirst, which is also called Polydipsia. Then there is an increased hunger; known as Polyphagia, Fatigue Loss of appetite and loss of weight Blurred vision Dry mouth, also known as Xerostomia Causes of Type 1 Diabetes Type 1 Diabetes is considered to be an auto immune disease; however the exact cause of this disease is still unknown. Scientists have found that the immune system of a body starts attacking the beta cells of the pancreas which are responsible for producing insulin in the body. Genetics: Genetics seem to play a majo Continue reading >>

Genetic Diabetes

Genetic Diabetes

Many people wonder, is type 1 diabetes genetic, and is type 2 diabetes genetic? The common types of diabetes tend to run in families. However, neither type 1 diabetes (thin diabetes) nor type 2 diabetes (fat diabetes) is truly a genetic disease. It is possible for one member of a pair of identical twins to have thin or fat diabetes, while the other twin remains healthy. It is even possible for a person with fat diabetes to recover from their diabetes, by losing weight. Nevertheless, there are a few rare forms of diabetes that truly are genetic diseases. These conditions are sometimes called monogenic diabetes because they result from a mutation in a single gene. By the 1970s, it was clear that some cases of diabetes did not fit neatly into either of the main types of diabetes mellitus. In particular, there were some cases that were relatively mild (like type 2 diabetes) but occurred in young, thin children (like type 1 diabetes). In these cases, the doctors suspected that they had spotted an early case of type 1 diabetes, but the problem never seemed to progress. Eventually, doctors realized that this problem ran in families. This condition was eventually called maturity-​onset diabetes of the young (MODY). Several forms of MODY have been identified. Each is associated with one particular gene mutation. MODY is an autosomal dominant trait. You need only one copy of the defective gene in order to have the problem. Cases of MODY tend to be mild. In many cases, the person seems healthy. The only evidence of disease may be a high blood sugar reading during routine bloodwork. Many cases are discovered only after relatives of someone with a diagnosed case of MODY go in for testing. The treatment for MODY varies, depending on the particular gene mutation involved. Many cases Continue reading >>

Type 1 Diabetes

Type 1 Diabetes

Type 1 diabetes is a disorder characterized by abnormally high blood sugar levels. In this form of diabetes, specialized cells in the pancreas called beta cells stop producing insulin. Insulin controls how much glucose (a type of sugar) is passed from the blood into cells for conversion to energy. Lack of insulin results in the inability to use glucose for energy or to control the amount of sugar in the blood. Type 1 diabetes can occur at any age; however, it usually develops by early adulthood, most often starting in adolescence. The first signs and symptoms of the disorder are caused by high blood sugar and may include frequent urination (polyuria), excessive thirst (polydipsia), fatigue, blurred vision, tingling or loss of feeling in the hands and feet, and weight loss. These symptoms may recur during the course of the disorder if blood sugar is not well controlled by insulin replacement therapy. Improper control can also cause blood sugar levels to become too low (hypoglycemia). This may occur when the body's needs change, such as during exercise or if eating is delayed. Hypoglycemia can cause headache, dizziness, hunger, shaking, sweating, weakness, and agitation. Uncontrolled type 1 diabetes can lead to a life-threatening complication called diabetic ketoacidosis. Without insulin, cells cannot take in glucose. A lack of glucose in cells prompts the liver to try to compensate by releasing more glucose into the blood, and blood sugar can become extremely high. The cells, unable to use the glucose in the blood for energy, respond by using fats instead. Breaking down fats to obtain energy produces waste products called ketones, which can build up to toxic levels in people with type 1 diabetes, resulting in diabetic ketoacidosis. Affected individuals may begin breathin Continue reading >>

Diabetes Metillus

Diabetes Metillus

Transcript of Diabetes Metillus Chromosome and Mutation Inheritance Dominant, Recessive, or Sex-linked? Diagnosis, Treatment, and Life Expectancy Symptoms and Conditions Frequency of disease What chromosome is affected? How is it inherited? Is it a dominant trait, recessive trait, or sex-linked trait? What is the frequency of disease in the population? Marina Luo Diabetes metillus Diabetes Metillus Type 1 diabetes is a "complex trait", meaning mutations in several genes contribute to the disease. The strongest gene, IDDM1, is located on chromosome 6. The IDDM loci are found on several different chromosomes and contain many genes. Some of these genes are suspected to play a role in susceptibility to type 1 diabetes. A predeposition to develop type 1 diabetes is passed through generations in families, but the inheritance pattern is unknown. Type 1 diabetes is a polygenic disease, meaning numerous genes contribute to its onset. Depending on locus or combination of loci, they can be dominant, recessive, or somewhere in between. Type 1 diabetes occurs in 10 to 20 per 100,000 people per year in the United States. By age 18, approximately 1 in 300 people in the United States develop type 1 diabetes. The disorder occurs with similar frequencies in Europe, the United Kingdom, Canada, and New Zealand. Type 1 diabetes occurs much less frequently in Asia and South America, with reported incidences as low as 1 in 1 million per year. An A1C level of 6.5% or higher, a random blood sugar level of 200 (mg/dL) indicates you have diabetes. How is diabetes treated? T1D involves insulin injections and frequent blood checks. T2D involves monitoring blood sugar , along with diabetes medication, insulin, or both. What is the life expectancy of someone with this disorder? Type 2 diabetes is lik Continue reading >>

Diabetes Type 1 And All The Information You Need | Easydna Uk

Diabetes Type 1 And All The Information You Need | Easydna Uk

Type 1 Diabetes is known by many other names; the most common ones include juvenile diabetes, insulin dependent diabetes and Diabetes Mellitus Type 1. It is one of the autoimmune diseases in which the beta cells of the pancreas, which create an important hormone (called insulin), are destroyed and consequently the pancreas produce little or no insulin at all. The result is that with not enough insulin in the body, the glucose fails to get absorbed in the cells for energy and the blood sugar level rises. This test cannot be ordered as an individual test but only as a part of the list of diseases included in our Genetic Predisposition Test panel. There is no cure to Type 1 Diabetes but with proper and disciplined care, the patient can hope to live a long and otherwise healthy life; or else Type 1 Diabetes can prove to be fatal. For support and information useful to the diabetes sufferer visit Diabetes UK. Type 1 diabetes usually appears in the patient during the early years; however, it can also develop in adults. As with all other major diseases, certain signs and symptoms will start to show up and these are the indications of Type 1 Diabetes. On the occurrence of these symptoms, it is advisable to consult the doctor. Following are the various symptoms. Type 1 Diabetes is considered to be an auto immune disease; however the exact cause of this disease is still unknown. Scientists have found that the immune system of a body starts attacking the beta cells of the pancreas which are responsible for producing insulin in the body. Genetics: Genetics seem to play a major role in the onset of type 1 diabetes in an individual. People whose close relatives, including parent or sibling, have type 1 diabetes are at an average 6% risk of developing this condition in their body as w Continue reading >>

Ask The Diabetes Team

Ask The Diabetes Team

Question: From San Jose, California, USA: Is diabetes recessive or dominant, and how is it inherited? A lot of my ancestors have diabetes and I wanted to know the chance I would get diabetes. Answer: The inheritance of diabetes is rather more complicated than the simple Mendelian concept of dominant and recessive, autosomal or sex-linked. Type 1 Diabetes depends to some extent on the inherited pattern of certain white blood cell surface proteins, usually referred to as HLA types. However, there is an environmental component which is a major factor in deciding whether those who are 'at risk' will develop clinical diabetes. This was realised when it was found that identical twins were discordant for this kind of diabetes. What the factor(s) are is not known: for a number of years early exposure to cow's milk was thought to be one; but this has subsequently been discounted. In adult onsetdiabetes, it is even harder to be precise about the likelihood of developing the condition. In some cases especially amongst Maturity Onset Diabetes of the Young specific chromosomal abnormalities have been defined; but there has not been time to assemble the family trees needed to define the actual mode of inheritance. For the majority of Type 2 Diabetics the mechanisms are not defined in precise molecular or chromosomal terms. Ethnic factors are also important. Finally, there is the factor of stress which may hasten the onset of any form of diabetes and perhaps the commonest of these in later life is age. You write about 'ancestors' which suggest that you have no first degree relatives with any form of diabetes. This in turn would suggest that your chances of getting the disease are no more than for the population as a whole, age adjusted. Continue reading >>

Defining The Genetic Contribution Of Type 2 Diabetes Mellitus

Defining The Genetic Contribution Of Type 2 Diabetes Mellitus

Diabetes mellitus (DM) affects over 150 million people world wide, with a prevalence that varies markedly from population to population.1 Estimates predict that almost 300 million people will suffer from DM by 2025 (fig 1) with the vast majority being cases of diabetes mellitus type 2. Many risk factors have been identified which influence the prevalence (total number of cases as a percentage of the total population) or incidence (total number of new cases per year as a percentage of the total population). Factors of particular importance are a family history of diabetes mellitus, age, overweight, increased abdominal fat, hypertension, lack of physical exercise, and ethnic background. Several biochemical markers have also been identified as risk factors, including fasting hyperinsulinaemia, increased fasting proinsulin, and decreased HDL cholesterol.2 Both diabetes mellitus types 1 and 2 show a familial predisposition, which is a strong indication for the involvement of genes in people's susceptibility to the disease. However, the aetiology underlying types 1 and 2 is different and different genes are likely to be involved in each type of diabetes mellitus. The following discussion focuses on a genetic dissection of type 2 diabetes mellitus. The two most common forms of diabetes mellitus, type 1 and type 2, are both characterised by raised plasma glucose levels. Normal glucose homeostasis depends on the balance between glucose production by the liver and kidneys and glucose uptake by the brain, kidneys, muscles, and adipose tissue. Insulin, the predominant anabolic hormone involved, increases the uptake of glucose from the blood, enhances its conversion to glycogen and triglyceride, and also increases glucose oxidation. Plasma glucose levels are normally kept within a s Continue reading >>

Is Type 1 Diabetes Genetic/hereditary? | Causes & Treatment - Dlife

Is Type 1 Diabetes Genetic/hereditary? | Causes & Treatment - Dlife

When left uncontrolled, high blood sugar can also cause other complications, affecting the eyes, nerves, kidneys, and cardiovascular system.[1], [4] The difference between type 1 and type 2 diabetes is that in type 1, the body does not produce insulin at all; this is why it is called insulin dependent diabetes. In type 2 diabetes, the body produces insulin but the cells are not able to utilize the insulin produced; this is why it is commonly referred to as insulin resistant diabetes. Over time, the bodys cells can develop insulin resistance in type 1 diabetes, too.[1],[5] Diabetes is diagnosed by testing the level of blood sugar or A1C (glycated hemoglobin). An A1C reading measures the three-month average plasma glucose concentration in the blood. Type 1 diabetes can be distinguished from type 2 by testing for the presence of autoantibodies (a type of protein produced by an individuals immune system directed against one or more of the individuals own proteins).[6],[7] When specific autoantibodies are found, a doctor can make the diagnosis of type 1 diabetes. Type 1 diabetes is a rarer form of diabetes than type 2. Type 1 diabetes accounts for only five to 10 percent of all diabetes cases. Although it can occur at any age, it is more common in children and adolescents less than 15 years of age. This is why the condition was previously coined juvenile diabetes.[8],[9] The occurrence is similar in men and women, although in children it is more common in girls. Type 1 diabetes most commonly occurs during puberty. Because girls typically enter puberty earlier than boys, the condition is often diagnosed earlier in girls. After puberty, the incidence rate drops in women but continues to occur in men between the ages of 29 and 35. More than 500,000 children are currently livin Continue reading >>

Is Type 2 Diabetes Caused By Genetics?

Is Type 2 Diabetes Caused By Genetics?

Diabetes is a complex condition. Several factors must come together for you to develop type 2 diabetes. For example, obesity and a sedentary lifestyle play a role. Genetics can also influence whether you’ll get this disease. If you’ve been diagnosed with type 2 diabetes, there’s a good chance that you’re not the first person with diabetes in your family. According to the American Diabetes Association, your risk of developing type 2 diabetes is: 1 in 7 if one of your parents was diagnosed before the age of 50 1 in 13 if one of your parents was diagnosed after the age of 50 1 in 2, or 50 percent, if both your parents have diabetes Several gene mutations have been linked to the development of type 2 diabetes. These gene mutations can interact with the environment and each other to further increase your risk. Type 2 diabetes is caused by both genetic and environmental factors. Scientists have linked several gene mutations to a higher diabetes risk. Not everyone who carries a mutation will get diabetes. But many people with diabetes do have one or more of these mutations. It can be difficult to separate genetic risk from environmental risk. The latter is often influenced by your family members. For example, parents with healthy eating habits are likely to pass them on to the next generation. On the other hand, genetics plays a big part in determining weight. Sometimes behaviors can’t take all the blame. Studies of twins suggest that type 2 diabetes might be linked to genetics. These studies were complicated by the environmental influences that also affect type 2 diabetes risk. To date, numerous mutations have been shown to affect type 2 diabetes risk. The contribution of each gene is generally small. However, each additional mutation you have seems to increase your Continue reading >>

Genetic Causes Of Diabetes Mellitus Type 2

Genetic Causes Of Diabetes Mellitus Type 2

Most cases of diabetes mellitus type 2 involved many genes contributing small amount to the overall condition.[1] As of 2011 more than 36 genes have been found that contribute to the risk of type 2 diabetes.[2] All of these genes together still only account for 10% of the total genetic component of the disease.[2] There are a number of rare cases of diabetes that arise due to an abnormality in a single gene (known as monogenic forms of diabetes).[1] These include maturity onset diabetes of the young (MODY), Donohue syndrome, and Rabson–Mendenhall syndrome, among others.[1] Maturity onset diabetes of the young constitute 1–5% of all cases of diabetes in young people.[3] Polygenic[edit] Genetic cause and mechanism of type 2 diabetes is largely unknown. However, single nucleotide polymorphism (SNP) is one of many mechanisms that leads to increased risk for type 2 diabetes. To locate genes and loci that are responsible for the risk of type 2 diabetes, genome wide association studies (GWAS) was utilized to compare the genomes of diabetic patient group and the non-diabetic control group.[4] The diabetic patients’ genome sequences differ from the controls' genome in specific loci along and around numerous genes, and these differences in the nucleotide sequences alter phenotypic traits that exhibit increased susceptibility to the diabetes. GWAS has revealed 65 different loci (where single nucleotide sequences differ from the patient and control group's genomes), and genes associated with type 2 diabetes, including TCF7L2, PPARG, FTO, KCNJ11,NOTCH2, WFS1, IGF2BP2, SLC30A8, JAZF1, HHEX, DGKB, CDKN2A, CDKN2B, KCNQ1, HNF1A, HNF1B MC4R, GIPR, HNF4A, MTNR1B, PARG6, ZBED3, SLC30A8, CDKAL1, GLIS3, GCKR, among others.[4][5][6][7]KCNJ11 (potassium inwardly rectifying channel, subfa Continue reading >>

11111 Fact Sheet 48|diabetes Types 1 And 2 And Inherited Predisposition

11111 Fact Sheet 48|diabetes Types 1 And 2 And Inherited Predisposition

 WHAT IS DIABETES? Diabetes mellitus (commonly known as diabetes) refers to a group of conditions which cause high levels of glucose (a form of sugar) in the blood. Glucose provides the energy that cells need to function. The level of glucose in an individual’s blood is carefully regulated by the hormone insulin. Insulin is produced in the pancreas and its role is to keep the levels of glucose balanced - not too high and not too low - as both extremes are dangerous and can disrupt the body’s chemical processes. There are two major forms of diabetes:  Type 1 (insulin dependent diabetes mellitus: IDDM)  Type 2 (non-insulin dependent diabetes mellitus: NIDDM). There is also another rarer type of diabetes called mature onset diabetes of the young (MODY). All of these forms of diabetes have different symptoms and a different genetic basis. Type 1 diabetes (IDDM) Type 1 diabetes is a chronic autoimmune disease, where the immune system destroys the insulin- producing cells of the pancreas. About 10% to 15% of people with diabetes in Australia have type 1 diabetes. The general population risk for developing type 1 diabetes is around 1 in 1000. The condition is usually first seen in childhood or adolescence and so is sometimes called juvenile diabetes. The risk of type 1 diabetes in 0-14 year olds around 1 in 750. It can, however, occur at any age and onset after the age of 20 years occurs in 50% of cases. Symptoms include:  thirst  frequent urination  weight loss  fatigue  blurred vision  sugar in the urine Insulin medication (usually by injection) is necessary to provide the body with insulin, and thus type 1 diabetes is described as insulin- dependent diabetes (IDDM). In about 90% of cases, individua Continue reading >>

The Discovery Of Type 1 Diabetes

The Discovery Of Type 1 Diabetes

The etiological heterogeneity of idiopathic diabetes has been recognized for 25 years, and subdivision into type 1 and type 2 diabetes is fundamental to the way we think about the disease. Review of the literature suggests that the concept of type 1 diabetes as an immunemediated disease emerged rapidly over the period from 1974 to 1976 and showed many of the features of a classic paradigm shift. A few key observations triggered recognition and acceptance of the new paradigm, but the necessary context was provided by scientific developments in areas mainly unrelated to diabetes. The disease paradigm established by 1976 is still widely accepted, and its essential features have been modified only in detail by the revolution in molecular biology that has occurred over the intervening period. Notwithstanding, some of the underlying assumptions remain imprecise, unchallenged, or unconfirmed. Appreciation of the historical origin and subsequent evolution of these fundamental concepts could stimulate critical analysis and help prepare the way for a new paradigm. “The history of modern knowledge is concerned in no small degree with man's attempt to escape from his previous concepts.” The word “paradigm” has the root meaning “to show side by side” and is used when an ideal or theoretical model is held up against reality. The historian Thomas Kuhn has pointed out that groups of scientists working within an area form loosely interwoven communities with a common working map, or paradigm (1a). As he put it, “A paradigm is what the members of a scientific community share, and, conversely, a scientific community consists of men who share a paradigm.” Scientific communities can be surprisingly resistant to new ideas or data that do not fit the accepted model, and change, Continue reading >>

Journal Of Autoimmunity 27 (2006) 174e181 Www.elsevier.com/locate/issn/08968411

Journal Of Autoimmunity 27 (2006) 174e181 Www.elsevier.com/locate/issn/08968411

A genetic explanation for the rising incidence of type 1 diabetes, a polygenic disease Z.L. Awdeh a,h,*, Edmond J. Yunis a,b,e, Mark J. Audeh f, Dolores Fici a,h, Alberto Pugliese g, Charles E. Larsen a,c, Chester A. Alper a,d a The CBR Institute for Biomedical Research, 800 Huntington Avenue, Boston, MA 02115, USA b Department of Pathology, Harvard Medical School, Boston, MA 02115, USA c Department of Medicine, Harvard Medical School, Boston, MA 02115, USA d Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA e Dana-Farber Cancer Institute, Boston, MA 02115, USA f Boston College, Chestnut Hill, MA 02467, USA g Diabetes Research Institute, University of Miami School of Medicine, Miami, FL 33101, USA h Pulsar Clinical Technologies Inc., 767 Concord Avenue, Cambridge, MA 02138, USA Abstract We had earlier hypothesized, if parents originated from previously isolated populations that had selected against different critical suscepti- bility genes for a polygenic disease, their offspring could have a greater risk of that disease than either parent. We therefore studied parents of patients with type 1 diabetes (T1D). We found that parents who transmitted HLA-DR3 to HLA-DR3/DR4 patients had different HLA-A allele frequencies on the non-transmitted HLA haplotype than HLA-DR4-transmitters. HLA-DR3-positive parents also had different insulin (INS ) gene allele frequencies than HLA-DR4-positive parents. Parent pairs of patients had greater self-reported ethnicity disparity than parent pairs in control families. Although there was an excess of HLA-DR3/DR4 heterozygotes among type 1 diabetes patients, there were significantly fewer HLA-DR3/DR4 heterozygous parents of patients than expected. These findings are consistent with HLA-DR and INS VNTR alleles mark- ing b Continue reading >>

Candidate Gene Association Study In Type 2 Diabetes Indicates A Role For Genes Involved In Β-cell Function As Well As Insulin Action

Candidate Gene Association Study In Type 2 Diabetes Indicates A Role For Genes Involved In Β-cell Function As Well As Insulin Action

Abstract Type 2 diabetes is an increasingly common, serious metabolic disorder with a substantial inherited component. It is characterised by defects in both insulin secretion and action. Progress in identification of specific genetic variants predisposing to the disease has been limited. To complement ongoing positional cloning efforts, we have undertaken a large-scale candidate gene association study. We examined 152 SNPs in 71 candidate genes for association with diabetes status and related phenotypes in 2,134 Caucasians in a case-control study and an independent quantitative trait (QT) cohort in the United Kingdom. Polymorphisms in five of 15 genes (33%) encoding molecules known to primarily influence pancreatic β-cell function—ABCC8 (sulphonylurea receptor), KCNJ11 (KIR6.2), SLC2A2 (GLUT2), HNF4A (HNF4α), and INS (insulin)—significantly altered disease risk, and in three genes, the risk allele, haplotype, or both had a biologically consistent effect on a relevant physiological trait in the QT study. We examined 35 genes predicted to have their major influence on insulin action, and three (9%)—INSR, PIK3R1, and SOS1—showed significant associations with diabetes. These results confirm the genetic complexity of Type 2 diabetes and provide evidence that common variants in genes influencing pancreatic β-cell function may make a significant contribution to the inherited component of this disease. This study additionally demonstrates that the systematic examination of panels of biological candidate genes in large, well-characterised populations can be an effective complement to positional cloning approaches. The absence of large single-gene effects and the detection of multiple small effects accentuate the need for the study of larger populations in order to re Continue reading >>

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