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Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.

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Progerin

Introduction

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

  1. ↑ 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)
  2. ↑ 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. ↑ 3.0 3.1 “Anti-cancer Drugs May Hold Promise For Premature Aging Disorder”. Retrieved 2008-07-15.
  4. ↑ 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 |month= ignored (help)
    “Adult stem cell changes underlie rare genetic disease associated with accelerated aging”. Retrieved 2008-07-15.
  5. ↑ Liu B, Zhou Z (2008). “Lamin A/C, laminopathies and premature ageing”. Histol. Histopathol. 23 (6): 747–63. PMID 18366013. Unknown parameter |month= ignored (help)

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