Diabetes mellitus is considered to be a paradigm for multifactorial diseases, as both genetic and environmental factors are involved in its development. HLA region on chromosome 6 is known to play a major role in the genetic susceptibility to insulin dependent diabetes mellitus (IDDM). However, it is now clear that other chromosomal regions are also part of the genetic background of IDDM. That is the case of the insulin gene region on chromosome 11. Non insulin-dependent diabetes mellitus (NIDDM) is a genetic disorder with an epidemic development in the westernized civilisations. The knowledge of genetic factors, would help in screening those individuals susceptible to diabetes and prevent overfeeding, overweight and sedentarity; these environmental factors can reveal or worsen diabetes. NIDDM is a clinically and genetically heterogeneous disorder, probably due to the alteration of several genes. The collection of numerous and large families with several diabetic subjects with sorting in clinically homogeneous subgroups are necessary to identify the susceptibility genes. It has been recently shown that glucokinase (enzyme that phosphorylates glucose in pancreatic beta-cell and liver) was the cause of MODY (Maturity Onset Diabetes of the Young) a NIDDM subtype characterized by an autosomal dominant mode of inheritance and an early age of onset. Glucokinase mutations are responsible for a mild hyperglycemia with onset during childhood or pregnancy; in addition, diabetes can be due to mutations in mitochondrial DNA in families where the disease is maternally transmitted and often associated with hearing loss. These two genetic defects each account for about 2 to 5% of NIDDM patients. Screening for these mutations is now feasible.
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