Hutchinson-Gilford Progeria Syndrome: Rare Abnormal Genetics Condition
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Hutchinson-Gilford Progeria syndrome (HGPS) is also known as progeria or progeria of childhood. Unlike Werner Syndrome, which has an autosomal recessive mode of inheritance, it is caused by a dominant mutation of a type known as a gain of function or a dominant negative. The affected gene is known as Lamin A/C. It codes for a protein that coats the inner lining of the nuclei of cells. There is evidence that defective forms of the protein result in two broad classes of abnormalities – a mechanical weakness of nuclei, with herniations of nuclear material, and defects in the regulation of gene expression. There is also evidence of accelerated replicative senescence of cultured somatic cells, but this is not as striking as in Werner Syndrome. (more…)





