Icmt Lamin A Methylation Progeria

Several progeroid disorders including hutchinson gilford progeria syndrome hgps and restrictive dermopathy zmpste24 deficiency arise when a farnesylated and methylated form of prelamin a accumulates at the nuclear envelope.

Icmt lamin a methylation progeria.

1330 1 published online 16 may. The e145k progeria mutation in la c alters lamin structure and assembly inducing profound changes in nuclear architecture a reduction in b type lamin expression and premature senescence. Hutchinson gilford progeria syndrome hgps is a progeroid disease characterized by the early onset of age related phenotypes including arthritis loss of body fat and hair and atherosclerosis. Children with hutchinson gilford progeria syndrome hgps exhibit premature aging phenotypes and often die during their teenage years.

Hutchinson gilford progeria syndrome hgps and other prelamin a associated progeroid disorders arise when farnesylated and methylated forms of prelamin a accumulate at the nuclear envelope. The major nuclear lamin proteins expressed in humans are lamins a c b1 b2 and b3 encoded by the genes lmna for both lamins a and c lmnb1 and lmnb2 for both. In contrast to the more common laδ50 progerin mutation the e145k mutation does not alter the posttranslational processing of the c terminus which. Progeria is characterized predominantly by a unique heterozygous autosomal de novo point mutation in lmna gene c1824 t which codes for the nuclear lamina protein lamin a 19 20.

See the perspective by johnson 2 show that reducing the activity of the isoprenylcysteine carboxyl methyltransferase icmt mislocalizes.