Home > D. Systemic pathology > Genetic and developmental anomalies > Genetic metabolic diseases > type 2 diabetes

type 2 diabetes

Tuesday 23 September 2003

Type 2 diabetes is a polygenic disorder characterized by multiple biochemical defects including transcriptional, translational, and posttranslational abnormalities. Although major progress has been made in elucidation of factors at the transcriptional and posttranslational levels, defects at the translational level remain elusive.

Insulin resistance

The insulin resistance of type 2 diabetes appears to be caused in part by the presence of high levels of lipids in cells such as skeletal muscle where this would not normally be found. The presence of excess lipid stores in skeletal muscle cells interferes with energy metabolism, impairing glucose oxidation and insulin response.

Skeletal muscle is one of the primary glucose-consuming tissues, giving it a central role in insulin resistance. The increased risk of diabetes associated with obesity may be caused by increased lipid deposits in skeletal muscle and liver, creating insulin resistance.

Translational anomalies

- see translation diseases

Susceptibility loci

- 5q34-q35.2 (12851856)
- calpain-10 variation

Videos

- Type 2 Diabetes mellitus by Washington Deceit

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- Diabetes

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References

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- Ashcroft F, Rorsman P. Type 2 diabetes mellitus: not quite exciting enough? Hum Mol Genet. 2004 Apr 1;13 Spec No 1:R21-31. PMID: 14734629

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- Cox NJ. Challenges in identifying genetic variation affecting susceptibility to type 2 diabetes: examples from studies of the calpain-10 gene. Hum Mol Genet. 2001 Oct 1;10(20):2301-5. PMID: 11673414

- Sone H, Suzuki H, Takahashi A, Yamada N. Disease model: hyperinsulinemia and insulin resistance. Part A-targeted disruption of insulin signaling or glucose transport. Trends Mol Med. 2001 Jul;7(7):320-2. PMID: 11425641

- Sone H, Takahashi A, Iida K, Yamada N. Disease model: hyperinsulinemia and insulin resistance. Part B—polygenic and other animal models. Trends Mol Med. 2001 Aug;7(8):373-6. PMID: 11516999

- Hoppener JW, Ahren B, Lips CJ. Islet amyloid and type 2 diabetes mellitus. N Engl J Med. 2000 Aug 10;343(6):411-9. PMID: 10933741