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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]


  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)

Cost Effectiveness of Progerin

| group5 = Clinical Trials Involving Progerin | list5 = Ongoing Trials on Progerin at Clinical Trials.govTrial results on ProgerinClinical Trials on Progerin at Google

| group6 = Guidelines / Policies / Government Resources (FDA/CDC) Regarding Progerin | list6 = US National Guidelines Clearinghouse on ProgerinNICE Guidance on ProgerinNHS PRODIGY GuidanceFDA on ProgerinCDC on Progerin

| group7 = Textbook Information on Progerin | list7 = Books and Textbook Information on Progerin

| group8 = Pharmacology Resources on Progerin | list8 = AND (Dose)}} Dosing of ProgerinAND (drug interactions)}} Drug interactions with ProgerinAND (side effects)}} Side effects of ProgerinAND (Allergy)}} Allergic reactions to ProgerinAND (overdose)}} Overdose information on ProgerinAND (carcinogenicity)}} Carcinogenicity information on ProgerinAND (pregnancy)}} Progerin in pregnancyAND (pharmacokinetics)}} Pharmacokinetics of Progerin

| group9 = Genetics, Pharmacogenomics, and Proteinomics of Progerin | list9 = AND (pharmacogenomics)}} Genetics of ProgerinAND (pharmacogenomics)}} Pharmacogenomics of ProgerinAND (proteomics)}} Proteomics of Progerin

| group10 = Newstories on Progerin | list10 = Progerin in the newsBe alerted to news on ProgerinNews trends on Progerin

| group11 = Commentary on Progerin | list11 = Blogs on Progerin

| group12 = Patient Resources on Progerin | list12 = Patient resources on ProgerinDiscussion groups on ProgerinPatient Handouts on ProgerinDirections to Hospitals Treating ProgerinRisk calculators and risk factors for Progerin

| group13 = Healthcare Provider Resources on Progerin | list13 = Symptoms of ProgerinCauses & Risk Factors for ProgerinDiagnostic studies for ProgerinTreatment of Progerin

| group14 = Continuing Medical Education (CME) Programs on Progerin | list14 = CME Programs on Progerin

| group15 = International Resources on Progerin | list15 = Progerin en EspanolProgerin en Francais

| group16 = Business Resources on Progerin | list16 = Progerin in the MarketplacePatents on Progerin

| group17 = Informatics Resources on Progerin | list17 = List of terms related to Progerin