Progerin
Progerin
Progerin (/proʊˈdʒɛrɪn/) is a mutant form of the protein lamin A, which is involved in maintaining the structural integrity of the cell nucleus in mammals. The term "progerin" is derived from the Greek word "progeria", meaning "prematurely old".
Etymology
The term "progerin" is derived from the Greek word "progeria", which means "prematurely old". It was first used in the context of the protein in 2003 when researchers discovered its role in the aging process.
Function
Progerin is a truncated version of the lamin A protein, which is produced as a result of a mutation in the LMNA gene. This mutation causes a deletion of 50 amino acids near the C-terminus of the protein. The presence of progerin in the cell nucleus leads to a range of structural and functional abnormalities, including nuclear blebbing, loss of peripheral heterochromatin, and changes in gene expression.
Associated Conditions
Progerin is most notably associated with Hutchinson-Gilford Progeria Syndrome (HGPS), a rare genetic disorder characterized by rapid aging in children. It is also found in small amounts in the cells of healthy individuals and its accumulation is thought to contribute to the normal aging process.
Related Terms
External links
- Medical encyclopedia article on Progerin
- Wikipedia's article - Progerin
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