Abstract
Prelamin A prenylation and the treatment of progeria
Highlights
Hutchinson-Gilford progeria syndrome (HGPS) is a rare, sporadic, autosomal dominant disease with phenotypic features of premature aging [1]
Prelamin A undergoes a farnesylation-dependent cleavage catalyzed by ZMPSTE24, which leads to removal of a 15-amino acid farnesylated polypeptide from the carboxylterminus
HGPS is caused by mutations in exon 11 of LMNA that optimize an alternative RNA splice donor site resulting in an in-frame deletion of 50 amino acids near the carboxylterminus of prelamin A [2, 3]
Summary
Hutchinson-Gilford progeria syndrome (HGPS) is a rare, sporadic, autosomal dominant disease with phenotypic features of premature aging [1]. In 2002, Bergo et al [8] and Pendás et al [9] showed that knocking out Zmpste24 in mice resulted in accumulation of unprocessed, farnesylated prelamin A and a progeroid phenotype. In 2004, Fong et al [10] showed that the progeroid phenotype of these mice was ameliorated by a genetic reduction of unprocessed, farnesylated prelamin A by crossing them to Lmna deficient mice.
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