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What Chromosome Is Diabetes On?

Diabetes mellitus (DM) is one of the most common diseases of the modern world. It is a disruption of carbohydrate fat, and protein metabolism, the most obvious sign being hyperglycemia, or high blood sugar. The disease results from a lack of insulin or reduced sensitivity to insulin by insulin receptors. In both cases, investigators have elucidated genetic mutations on various chromosomes.

  1. Classifications of DM

    • DM is classified into types 1 and 2. In type 1 (DMT1), which presents usually in children and young adults, insulin is absent because of the destruction of special cells called beta cells which produce insulin in the pancreas. DMT2, on the other hand, results from a decreased sensitivity to circulating insulin (which actually can be higher in the bloodstream as compared to normal) of the receptors on muscle cell membranes which provoke the uptake of glucose from the blood.

    Pathophysiology of DMT2

    • Most often, the malfunctioning of insulin receptors in DMT2 results from overburdening of the insulin system, as in obesity. Related to DMT2 is diabetes of pregnancy, or Gestational Diabetes. Because patients with DMT1 absolutely require insulin from external sources, it is known also as insulin-dependent DM (IDDM), while DMT2 is called non-insulin-dependent DM (NIDDM).

    Chromosomes and Genes

    • Chromosomes are long strands of deoxyribonucleic acid (DNA) held together, shaped and organized with proteins called histones. Humans have 46 chromosomes, 23 pairs, each with a multitude of genes. While small chromosomes, like the Y chromosome in males, have only a handful of genes, most hold many thousands.

    Genetics of Type 1 Diabetes

    • Since malfunction of beta cells in DMT1 can result from a variety of pathways, it should be no surprise that investigators have noted numerous loci on various chromosomes where alterations of the normal genetic sequence can result in the disease. Thus far, scientists have discovered about ten genes associated with DMT1. The first such gene to be identified occurs on chromosome 6; others are located on chromosomes 11, 2 and 7.

    Genetics of Type 2 Diabetes

    • Discovery of an ever-increasing number of genes associated with DMT1 has inspired scientists to search for genetic factors related to DMT2 as well. While much of these efforts focus on loci on chromosome 20, researchers also have found such genes on chromosomes 1 and 12 and, most recently, on chromosome 10. Additionally, investigators are focused on understanding the genetics a receptor for a protein called leptin, which relates to DMT2 as well as to appetite, obesity, and cancer.

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