Current Genomics - Volume 4, Issue 4, 2003

The pathophysiology of type 2 diabetes includes two apparently distinct defects i.e. impaired insulin action at the level of muscle, fat and liver, and failure in β-cells secretory capacity. Insulin action is mediated by the insulin receptor, (IR) a member of the receptor tyrosine kinase family also including the type 1 Insulin-like Growth Factor I (IGF-I) receptor (IGF-IR) and the orphan receptor Insulin Receptor-Related Receptor (IRR). Read More

Arterial thrombosis (manifested as myocardial infarction, ischaemic stroke, or peripheral occlusive artery disease) and venous thrombosis (main clinical presentations include deep vein thrombosis and pulmonary embolism) represent major health problems that are associated with high rates of morbidity and mortality, particularly in Western societies. Several lines of evidence point to a role of novel hemostatic genetic risk fac Read More

Using a classical candidate gene approach, we have described a common C825T polymorphism in the gene GNB3, encoding the ubiquitously expressed β3 subunit of heterotrimeric G proteins. The 825T allele causes alternative splicing of the gene and the generation of a truncated but functionally active splice variant of Gβ3, referred to as Gβ3s. In addition, the presence of a 825T allele is predictive of an enhanced sign Read More

Major Histocompatibility Complex class II (MHCII) molecules direct the development, activation and homeostasis of CD4+ T cells. Given these key functions it is not surprising that the absence of MHCII expression results in a severe primary immunodeficiency disease called MHCII deficiency or the Bare Lymphocyte Syndrome (BLS). The genetic defects responsible for BLS lie in genes encoding transcription factors required for M Read More

The Vpu protein of human immunodeficiency virus type 1 (HIV-1) is a small transmembrane protein that is synthesized late in the virus life cycle. Several functions have been ascribed to the Vpu protein in the life cycle of HIV-1. First, Vpu has been shown to interact with the CD4 molecule in the rough endoplasmic reticulum (RER), the receptor for HIV-1 entry, and this interaction is thought to result in re-translocation across t Read More