Summary Of Hutchinson-Gilford Progeria Syndrome

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Hutchinson-Gilford progeria syndrome (HGPS) is a syndrome that affects children and is fatal before the child hits pubescence. This syndrome is caused by a point mutation on the gene that codes for lamin A and C, LMNA. This mutation causes a 50 amino acid (aa) deletion in prelamin A that prevents the CAAX box from detaching. This aa deletion removes one of two vital sites of endoproteolytic cleavage that converts prelamin A, also called progerin, into mature lamin A. This results in an accumulation of prelamin A that causes nuclear compromises, called blebs, and a misshapen nuclei. We hypothesize that it is the farnesylation of prelamin A that targets a specific protein on the nuclear envelope that causes the weakening of the nuclear lamina

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