Restrictive dermopathy

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

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.cite journal | author = Young SG, Meta M, Yang SH, Fong LG | title = Prelamin A farnesylation and progeroid syndromes | journal = J. Biol. Chem. | volume = 281 | issue = 52 | pages = 39741–5 | year = 2006 | month = December | pmid = 17090536 | doi = 10.1074/jbc.R600033200 | url = | issn = ] 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.

ymptoms

Skin dysplasia

References