Restrictive dermopathy
Encyclopedia
Restrictive dermopathy is a rare, lethal autosomal recessive skin condition characterized by abnormal facies, tight skin, sparse or absent eyelashes, and secondary joint changes.
, which encodes a protein responsible for the cleavage of farnesylated prelamin A (progerin) into mature non-farnesylated lamin
, or by a mutation in the LMNA gene. This results in the accumulation of farnesyl-prelamin A at the nuclear membrane. 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.
Mechanism
Restrictive dermopathy (RD) is caused either by the loss of the gene ZMPSTE24ZMPSTE24
ZMPSTE24 is a human gene. The protein encoded by this gene is a metallopeptidase. It is involved in the processing of Lamin A....
, which encodes a protein responsible for the cleavage of farnesylated prelamin A (progerin) into mature non-farnesylated lamin
Lamin
Nuclear lamins, also known as Class V intermediate filaments, are fibrous proteins providing structural function and transcriptional regulation in the cell nucleus. Nuclear lamins interact with membrane-associated proteins to form the nuclear lamina on the interior of the nuclear envelope...
, or by a mutation in the LMNA gene. This results in the accumulation of farnesyl-prelamin A at the nuclear membrane. 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.