Progeria pathophysiology

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Vamsikrishna Gunnam M.B.B.S[2]

Overview

It is thought that Hutchinson-Gilford progeria is the result due to mutation in LMNA gene.

Pathophysiology

Pathogenesis

Genetics

Genes involved in the pathogenesis of Hutchinson-Gilford progeria syndrome (HGPS) include:[2]

LMNA Gene

Classic Hutchinson-Gilford progeria syndrome

Atypical progeria syndromes

References

  1. Pollex RL, Hegele RA (2004). "Hutchinson-Gilford progeria syndrome". Clin Genet. 66 (5): 375–81. doi:10.1111/j.1399-0004.2004.00315.x. PMID 15479179.
  2. Pollex RL, Hegele RA (2004). "Hutchinson-Gilford progeria syndrome". Clin Genet. 66 (5): 375–81. doi:10.1111/j.1399-0004.2004.00315.x. PMID 15479179.
  3. Eriksson M, Brown WT, Gordon LB, Glynn MW, Singer J, Scott L; 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.
  4. Decker ML, Chavez E, Vulto I, Lansdorp PM (2009). "Telomere length in Hutchinson-Gilford progeria syndrome". Mech Ageing Dev. 130 (6): 377–83. doi:10.1016/j.mad.2009.03.001. PMID 19428457.
  5. Pollex RL, Hegele RA (2004). "Hutchinson-Gilford progeria syndrome". Clin Genet. 66 (5): 375–81. doi:10.1111/j.1399-0004.2004.00315.x. PMID 15479179.
  6. Cao H, Hegele RA (2003). "LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090)". J Hum Genet. 48 (5): 271–4. doi:10.1007/s10038-003-0025-3. PMID 12768443.
  7. Mazereeuw-Hautier J, Wilson LC, Mohammed S, Smallwood D, Shackleton S, Atherton DJ; et al. (2007). "Hutchinson-Gilford progeria syndrome: clinical findings in three patients carrying the G608G mutation in LMNA and review of the literature". Br J Dermatol. 156 (6): 1308–14. doi:10.1111/j.1365-2133.2007.07897.x. PMID 17459035.
  8. Madej-Pilarczyk A (2006). "[Hutchinson-Gilford progeria in the light of contemporary genetics]". Med Wieku Rozwoj. 10 (1 Pt 2): 355–62. PMID 17028399.
  9. Glynn MW, Glover TW (2005). "Incomplete processing of mutant lamin A in Hutchinson-Gilford progeria leads to nuclear abnormalities, which are reversed by farnesyltransferase inhibition". Hum Mol Genet. 14 (20): 2959–69. doi:10.1093/hmg/ddi326. PMID 16126733.
  10. Csoka AB, English SB, Simkevich CP, Ginzinger DG, Butte AJ, Schatten GP; et al. (2004). "Genome-scale expression profiling of Hutchinson-Gilford progeria syndrome reveals widespread transcriptional misregulation leading to mesodermal/mesenchymal defects and accelerated atherosclerosis". Aging Cell. 3 (4): 235–43. doi:10.1111/j.1474-9728.2004.00105.x. PMID 15268757.
  11. Allsopp RC, Vaziri H, Patterson C, Goldstein S, Younglai EV, Futcher AB; et al. (1992). "Telomere length predicts replicative capacity of human fibroblasts". Proc Natl Acad Sci U S A. 89 (21): 10114–8. doi:10.1073/pnas.89.21.10114. PMC 50288. PMID 1438199.
  12. Moulson CL, Fong LG, Gardner JM, Farber EA, Go G, Passariello A; et al. (2007). "Increased progerin expression associated with unusual LMNA mutations causes severe progeroid syndromes". Hum Mutat. 28 (9): 882–9. doi:10.1002/humu.20536. PMID 17469202.
  13. Rivera-Torres J, Acín-Perez R, Cabezas-Sánchez P, Osorio FG, Gonzalez-Gómez C, Megias D; et al. (2013). "Identification of mitochondrial dysfunction in Hutchinson-Gilford progeria syndrome through use of stable isotope labeling with amino acids in cell culture". J Proteomics. 91: 466–77. doi:10.1016/j.jprot.2013.08.008. PMID 23969228.

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