SNP Shot: Genomic Insights

Type 1 diabetes is a condition where blood glucose (blood sugar) levels are abnormally high. In this disease, the beta cells in the pancreas, which normally produce insulin, stop doing so. Insulin is essential for allowing glucose from the blood to enter cells, where it's converted into energy. Without insulin, the body can't effectively use glucose for energy or regulate blood glucose levels.

Type 1 diabetes can develop at any age. The initial signs and symptoms, caused by elevated blood glucose, may include frequent urination (polyuria), excessive thirst (polydipsia), fatigue, blurred vision, tingling or numbness in the hands and feet, and weight loss. These symptoms can reappear if blood glucose isn't properly managed with insulin replacement therapy. Inadequate control can also lead to low blood glucose (hypoglycemia), which can happen when the body's needs change due to exercise or delayed meals. Hypoglycemia may cause headache, dizziness, hunger, shaking, sweating, weakness, and agitation.

If uncontrolled, type 1 diabetes can result in a dangerous condition called diabetic ketoacidosis. When insulin is absent, cells can't absorb glucose. This prompts the liver to release more glucose into the blood, causing extremely high blood glucose levels. Since cells can't use this glucose, they start using fats for energy. The breakdown of fats produces ketones, which can accumulate to toxic levels, causing diabetic ketoacidosis. Symptoms include rapid breathing, a fruity odor on the breath, nausea, vomiting, facial flushing, stomach pain, and a dry mouth (xerostomia). In severe cases, diabetic ketoacidosis can lead to coma and death.

Over time, the consistently high blood glucose associated with diabetes can damage blood vessels and nerves, leading to complications in various organs and tissues. Diabetic retinopathy, damage to the retina at the back of the eye, can cause vision loss and blindness. Diabetic nephropathy, kidney damage, can lead to kidney failure and end-stage renal disease (ESRD). Diabetic neuropathy, nerve damage causing pain, tingling, and loss of sensation, is common, especially in the feet. Poor circulation and lack of sensation can lead to permanent foot damage, potentially requiring amputation. People with type 1 diabetes also have a higher risk of heart attacks, strokes, and urinary and sexual dysfunction.

Inheritance:

A susceptibility to type 1 diabetes is inherited within families, but the specific pattern of inheritance is not yet understood.