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.^[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.

Symptoms

Skin dysplasia

References

↑ Young SG, Meta M, Yang SH, Fong LG (2006). “Prelamin A farnesylation and progeroid syndromes”. J. Biol. Chem. 281 (52): 39741–5. doi:10.1074/jbc.R600033200. PMID 17090536. Unknown parameter |month= ignored (help)

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[pmid17090536-1] Young SG, Meta M, Yang SH, Fong LG (2006). “Prelamin A farnesylation and progeroid syndromes”. J. Biol. Chem. 281 (52): 39741–5. doi:10.1074/jbc.R600033200. PMID 17090536. Unknown parameter |month= ignored (help)

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