Progerin Lamin A

It is the cause of progeria a rare condition that has the superficial appearance of greatly accelerated aging.

Progerin lamin a. Numerous mutations in the human a type lamin gene lmna cause the premature aging disease progeria. Progerin p02545 6 is a truncated version of the lamin a protein involved in the pathology of hutchinson gilford progeria syndrome. Progerin is a mutant form of the nucleoskeletal protein lamin a and its expression results in the rare premature aging disorder hutchinson gilford progeria syndrome hgps. First progerin targets are involved in different biological processes as compared to common targets including the general active pathway of proteolysis and are less enriched for tfms enriched in promoters bound by both lamin a and progerin.

Prelamin a contains a caax box at the c terminus of the protein where c is a cysteine and a is any aliphatic amino acids. Progerin is most often generated by a single nucleotide polymorphism c1824t in the gene that codes for lamin a. Progerin is the malformed version of lmna a protein vital to the structure of the cell nucleus. Lamin a lamin a is a major component of a protein scaffold on the inner edge of the nucleus called the nuclear lamina that helps organize nuclear processes such as rna and dna synthesis.