Progerin
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Progerin is a truncated version of lamin A protein involved in Hutchinson-Gilford progeria syndrome. Progerin is most often generated by a mutation (C1824T) in the lamin A gene, LMNA. This mutation activates a cryptic splice site and gives rise to a form of lamin A with a deletion of 50 amino acids.[1] Approximately 80% of Hutchinson-Gilford progeria syndrome cases carry a single copy of the most common mutation, a silent point mutation (G608G) within exon 11 of LMNA gene.[2]
Lamin A constitutes a major structural component of the lamina, a scaffold of proteins found inside the nuclear membrane of a cell; progerin does not properly integrate into the lamina, which disrupts the scaffold structure and leads to significant disfigurement of the nucleus, characterized by a lobular shape.[3] Researchers have shown that progerin activates genes that regulate stem cell differentiation via the Notch signaling pathway.[4]
Researchers are exploring farnesyltransferase inhibitors as a potential pharmacological therapy against the negative effects of progerin on nuclear morphology.[3]
Progerin, which has been linked to normal aging, is produced in healthy indivduals via “sporadic use of the cryptic splice site”.[4][5]
References
- ↑ Eriksson M, Brown WT, Gordon LB; et al. (2003). “Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome”. Nature. 423 (6937): 293–8. doi:10.1038/nature01629. PMID 12714972. Unknown parameter
|month=ignored (help) - ↑ McClintock D, Gordon LB, Djabali K (2006). “Hutchinson-Gilford progeria mutant lamin A primarily targets human vascular cells as detected by an anti-Lamin A G608G antibody”. Proc. Natl. Acad. Sci. U.S.A. 103 (7): 2154–9. doi:10.1073/pnas.0511133103. PMC 1413759. PMID 16461887. Unknown parameter
|month=ignored (help) - ↑ 3.0 3.1 “Anti-cancer Drugs May Hold Promise For Premature Aging Disorder”. Retrieved 2008-07-15.
- ↑ 4.0 4.1 Scaffidi P, Misteli T (2008). “Lamin A-dependent misregulation of adult stem cells associated with accelerated ageing”. Nat. Cell Biol. 10 (4): 452–9. doi:10.1038/ncb1708. PMC 2396576. PMID 18311132. Unknown parameter
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“Adult stem cell changes underlie rare genetic disease associated with accelerated aging”. Retrieved 2008-07-15. - ↑ Liu B, Zhou Z (2008). “Lamin A/C, laminopathies and premature ageing”. Histol. Histopathol. 23 (6): 747–63. PMID 18366013. Unknown parameter
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