Restrictive dermopathy

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Restrictive dermopathy is a rare, lethal autosomal recessive inherited progeroid disorder.

[edit] Mechanism

Restrictive dermopathy (RD) is caused by the loss of the gene ZMPSTE24, which encodes a protein responsible for the cleavage of farnesylated prelamin A (progerin) into mature non-farnesylated lamin. This results in the accumulation of farnesyl-prelamin A at the nuclear membrane ^[1]. Mechanistically, restrictive dermopathy is somewhat similar to Hutchinson-Gilford progeria syndrome (HGPS), a disease where the last step in lamin processing is hindered by a mutation that causes the loss of the ZMPSTE24 cleavage site in the lamin A gene.