What your DNA says about you

with just a saliva sample and from home

Buy

Diabetes Mellitus, Type 1

Diabetes mellitus is a chronic, multifactor pathology characterized by the existence of hyperglycemia (high blood sugar) when fasting or after eating in the context of insulin resistance and relative lack of insulin. This is in contrast to diabetes mellitus type 1, in which there is an absolute lack of insulin due to breakdown of islet cells in the pancreas. Insulin is needed to move blood sugar (glucose) into cells where it is stored and later used for energy. Over time, the illness can cause organ damage, dysfunction and insufficiency.

Diabetes is not only one illness, but rather encompasses a heterogeneous group of alterations of carbohydrate metabolism with distinct genetic patterns as well as different etiologies and pathophysiological mechanisms.

There are two main types of diabetes

Type 1 diabetes (T1B) usually develops in childhood and adolescence. It is an autoimmune illness which generates a deficiency in insulin production causing patients to require lifelong insulin injections for survival.

Type 2 diabetes (T2B) usually develops in adulthood and is related to obesity, lack of physical activity, and unhealthy diets. This is the more common type of diabetes (representing 90% of diabetic cases worldwide) and treatment may involve lifestyle changes and weight loss alone, or oral medications or even insulin injections.

Diabetes screening is recommended for

  • Overweight children who have other risk factors for diabetes, starting at age 10 and repeated every 2 years
  • Overweight adults (BMI of 25 or higher) who have other risk factors
  • Adults starting at age 45 every 3 years, or at a younger age if the person has risk factors such as
    • A history of gestational diabetes, glucose intolerance or impaired basal glucose
    • Women with a history of giving birth to babies weighing over 4.5 kg
    • Persons who are overweight (have a BMI Body Mass Index greater than or equal to 27 kg/m2 or greater than or equal to 120% ideal weight)
    • High blood pressure
    • a HDL cholesterol level less than or equal to 35 mg/dl and/or a triglyceride level greater than 250 mg/dl)
    • a family history of type 1 diabetes

Recommended testing: Fasting plasma venous glucose test

Type 1 Diabetes Mellitus (T1D)

In type 1 diabetes mellitus, the body produces an insufficient amount of the hormone insulin which is needed for normalizing blood sugar (glucose), causing levels of blood sugar (glycemia) higher than the normal. With type 1 diabetes, the pancreas does not make insulin due to an autoimmune mechanism of the beta cells. The most widely accepted theory on the pathogenesis of T1D proposes that a series of environmental factors lead to an immune mediated response of the T cells against the pancreas beta cells in those individuals who are genetically predisposed.

T1D is one of the chronic illnesses with the greatest incidence in children, comprising 5 – 10% of all types of diabetes world-wide. In recent years, epidemiologic studies have shown an increase of 5% annually in the number of cases; this means that environmental factors as well as genetic factors probably determine the development of the illness.

Glucose metabolism in the body

The first step to understanding diabetes is to understand how the body uses sugar, the foods that provide it and the consequences of insulin deficiency.

We need to eat foods that provide our bodies with the energy the diverse organs (heart, brain, kidneys, muscles, etc.) need to work properly and to renew the parts of the organs that are being used; in children, these foods have the additional important function of promoting the body’s growth and development.

The foods that we eat have fundamentally distinct proportions of carbohydrates or sugars, proteins and fats. The body cannot use them as is; the digestive apparatus (stomach and intestines) take charge of transforming them into smaller substances (for example, carbohydrates into sugars called glucose) that can be absorbed into the blood to be used adequately.

The blood flow carries the glucose (glycemia) to the cells (glucose cannot enter the cells if the “key”, i.e. insulin, is missing). The cells use it as a source of immediate energy production and the excess is stored in the liver and muscles as glycogen, being reserved energy. Finally, when these storage reservoirs are filled, the excess glucose is transformed into fat and accumulates.

Insulin is produced in the gland called the pancreas. The pancreas releases insulin into the blood depending on the amount of glucose there. When glycemia increases after meals, the pancreas responds by releasing more insulin, carrying glucose into the cells.

Since the body needs glucose to carry out its functions, it tries to maintain glucose levels around 70 – 110 mg/dl. Glycemia rises after meals (average 1-2 hours) and this creates a responses in the pancreas which makes the insulin needed to allow glucose to enter into the cells, thus maintaining the normal blood glucose level.

After several hours of not eating, and when the blood glucose begin to decrease in the liver and muscles, the brain orders certain glands in the body to release hormonal substances (glucagon, adrenaline, cortisone, and growth hormone) that, on acting on the liver and muscles, release the glucose stored in them and to increase it in the blood.

When the blood glucose level is low and the glucose stored in the liver and muscles is also low, then the greater part of the energy comes from the breakdown of fats. This is what happens in prolonged fasting and why weight is lost during this period. When fats are used as the main source of energy, the liver transforms the fats into ketone bodies, among which is acetone, that go into the blood and are eliminated from there through the urine and breath.

When there is not enough insulin because the pancreas does not function properly, it is difficult for the glucose to enter the cells and it remains in the blood, raising its level to above normal. At the same time, the cells do not have sufficient energy to work correctly. Faced with this situation, the body uses fats as its source of energy producing ketones. The blood circulates throughout the body and reaches the kidney where it is filtered and cleaned, eliminating the substances that it does not need.

If the glycemia is normal, the kidney does not eliminate glucose in the urine but when glycemia is above normal as happens in diabetes, glucose is found in the urine and is an indication of the levels in the blood when it was filtered. This happens when the levels are higher than, on the average, of 160-180 mg/dl, the glucose threshold level for the kidney.

The presence of glycosuria (always pathological) and ketonuria (with positive glycosuria translates to an insulin deficit) determines capillary or venous blood glucose (if it is ≥ 200mg/dl together with symptomology, confirms T1D diagnosis).

Symptoms

Regarding the above mentioned, the signs and symptoms of diabetes that a child has at the start comprises:

  • The accumulation of important amounts of blood glucose for lack of insulin. The cells need energy and the body sends it from the glucose reservoirs. This elevated level of blood glucose is called HYPERGLYCEMIA.
  • When the blood glucose is elevated above a determined level, it appears in the urine. Glucose in the urine is called GLYCOSURIA.
  • To eliminate glucose through the urine, the glucose has to be dissolved in large amounts of water. This is the reason why a diabetic has increased urinary amount and frequency, called POLYURIA.
  • To compensate for the loss of water through the urine, a diabetic is always thirsty, even at night. This condition is called POLYDIPSIA.
  • Because the glucose is not being used, the body’s cells need energy and a diabetic tries to compensate for this by increasing the amount of food eaten. Increased appetite is called POLYPHAGIA.
  • Since the cells do not have sufficient energy that they receive from glucose due to the lack of insulin, they make up for this by using the energy they get from fats. The excess or residue of this energy is ketone, eliminated through the urine. This is known as KETONURIA.
  • Although the diabetic child may eat more, the cells lack sufficient energy and must use that stored in reserve, contributing to weight loss and tiredness.

 

The development of T1D can vary from a non-urgent form to severe dehydration with shock, being a vital urgency.

Atypical symptoms of T1D can include:

  • Enuresis in a child that previously had bladder control
  • Vaginal candidiasis in pre-pubertal female children
  • Failure to grow or weight loss
  • Irritability, asthenia, mood changes, decreased scholastic achievement
  • Recurrent skin infections

Prevention

Diabetes mellitus is an illness that causes an important increase in the risk of developing and dying from a cardiovascular illness. This association is so closely linked that, from a clinical viewpoint, many authors and expert committees recommend treating the diabetic patient as if the patient’s arteries were already damaged in terms of other cardiovascular risk factors such as cholesterol levels, high blood pressure, use of antiplatelet agents, etc.

Diabetes, and especially uncontrolled diabetes, damages multiple organs and systems in addition to large and small blood vessels, causing:

  • Alterations in large blood vessels leading to heart attack, lack of blood flow to extremities, stroke, early onset arteriosclerosis, etc.
  • Damage to the eye retina (diabetic retinopathy)
  • Kidney damage (diabetic nephropathy)
  • Nervous system damage (diabetic neuropathy)
  • Skin lesions (diabetic dermopathy)

 

Education about diabetes is an important part of managing T1D. The intensive treatment requires the patient to adequately manage the illness and to do so, he or she needs an educational planning, continuing support and motivation. The available evidence shows a modest beneficial effect from educating the child and adolescent about glycemic control. Nevertheless, the positive effect in psychosocial parameters and the quality of life is clear, which is important in treating a chronic pathology.

For an educational program about diabetes to be successful, the following should be taken into consideration:

  • It must be structured: planned programming adapted to the necessities, context and age of the patient in a progressive and continuous form
  • It must have main objectives (achieve a better metabolic control, promote self-care and autonomy) and specific objectives (promote healthy habits, knowledge and positive attitudes).
  • The responsibility of educating is divided among: specialized attention (at the start, reviewing and forming educators about diabetes) and primary attention (more continuous) and associations for diabetics.
  • Accessibility to the patient, family members and care-givers
  • The contents of the program should include: knowledge (physiological, nutritional, exercise), skills (self-administration, self-control, dietary planning) and attitude (acceptance of and adaptation to the illness, self-responsibility, collaboration).
  • Those in charge of teaching about diabetes should have the pedagogic knowledge and educational skills to assure a correct knowledge transmission.

 

Diabetes treatment depends on three important factors - insulin administration, diet, and physical exercise. Patients and family members should understand that an equal weight of these factors in the T1D treatment is important, not only in optimum glycemic control but also in the prevention of vascular complication in the long run. There are studies that demonstrate that the optimum control of diabetes can prevent or delay the appearance of practically all related complications. In type 1 diabetes, the study known as DCCT (Diabetes Control Complications trial) has shown that a good metabolic control is crucial for preventing short term as well as long term complications.

Gene or region studied

  • TLR2
  • 1p13.2
  • CD226
  • ICAM1, ICAM4
  • 12p13.31
  • IL2RA
  • 12q13.2
  • ERBB3
  • ADAD1
  • CLEC16A
  • ITPR3
  • 6p21.32
  • SH2B3
  • ENAH
  • 18p11.21
  • NAA25
  • PTPN22
The DNA test you were looking for