2009, 2009, 2008, 2009, 2009
degenerative disease, premature aging syndromes, gene therapy, pharmaceuticals, klotho, Methuselah gene, sgs1 gene
The aging process can be accelerated by numerous cellular and molecular variables. Progeroid syndromes are one such example. The phenotypes of Hutchinson-Gilford Progeria Syndrome (HGPS) and Restrictive Dermopathy (RD) are both caused by an irregular pathway of the processing of prelamin A to mature lamin A, an integral component of the nuclear lamina. In wild-type cells, prelamin A undergoes farnesylation followed by cleavage that is carried out by the enzyme Zmpste24. A 50 amino acid deletion in the LMNA gene found in HGPS patients eliminates the cleavage site in prelamin A, causing an accumulation of farnesylated prelamin A. The buildup of this protein, known as progerin/LA∆50, occurs at the nuclear rim. In RD, nonfarnesylated and farnesylated prelamin A build up due to a deficiency in the Zmpste24 cleaving enzyme. In both syndromes, however, the accumulation of the different forms of prelamin A causes nuclear shape abnormalities and leads to phenotypes resembling premature aging. Currently, there are no known cures for HGPS and RD. However, FTIs and gene therapy are being studied as possible treatments. With continued research, more can be learned about the normal aging process, which could be applied in understanding progeroid syndromes and developing alternative treatments.
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