Neonatal progeria: Increased ratio of progerin to lamin A leads to progeria of the newborn

European Journal of Human Genetics

Volumn 20, Issue 9, 2012, Pages 933-937

  Reunert, Janine ^a   Wentzell, Rüdiger ^b   Walter, Michael ^c   Jakubiczka, Sibylle ^d   Zenker, Martin ^d   Brune, Thomas ^d   Rust, Stephan ^e   Marquardt, Thorsten ^a  

^a UNIVERSITY HOSPITAL MÜNSTER   (Germany)

^b Lukaskrankenhaus GmbH   (Germany)

^c CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^d UNIVERSITY HOSPITAL MAGDEBURG   (Germany)

^e Leibniz Institut fur Arterioskleroseforschung   (Germany)

Author keywords

HGPS; LMNA; neonatal progeria; progerin

Indexed keywords

COMPLEMENTARY DNA; LAMIN A; LAMIN C; MESSENGER RNA; NUCLEAR PROTEIN; PROGERIN; UNCLASSIFIED DRUG;

ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE SEVERITY; DOWN REGULATION; FIBROBLAST; GENE; GENE EXPRESSION; GENE FREQUENCY; GENE SEQUENCE; GENETIC VARIABILITY; HETEROZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; LAMIN A GENE; MALE; MUTATIONAL ANALYSIS; NEWBORN; NUCLEOTIDE SEQUENCE; POINT MUTATION; POLYACRYLAMIDE GEL ELECTROPHORESIS; PRIORITY JOURNAL; PROGERIA; WESTERN BLOTTING;

AGING, PREMATURE; ALTERNATIVE SPLICING; FATAL OUTCOME; FIBROBLASTS; GENE EXPRESSION; GENOTYPE; HETEROZYGOTE; HUMANS; INFANT, NEWBORN; INFANT, NEWBORN, DISEASES; LAMIN TYPE A; MALE; NUCLEAR PROTEINS; PHENOTYPE; PROGERIA; PROTEIN PRECURSORS; SEVERITY OF ILLNESS INDEX;

EID: 84865273590     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2012.36     Document Type: Article

References (32)

1. Gilford H: Progeria: a form of senilism. Practitioner 1904; 73: 188-217.
2. Hutchinson J: Congenital absence of hair and mammary glands with atrophic condition of the skin and its appendages in a boy whose mother had been almost totally bald from alopecia areata from the age of six. Med Chirurg Trans 1886; 69: 36.
3. De Sandre-Giovannoli A, Bernard R, Cau P et al: Lamin A truncation in Hutchinson- Gilford progeria. Science 2003; 300: 2055. (Pubitemid 36760124)
4. Eriksson M, Brown WT, Gordon LB et al: Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. Nature 2003; 423: 293-298. (Pubitemid 40852699)
5. Pendás AM, Zhou Z, Cadiñanos J et al: Defective prelamin A processing and muscular and adipocyte alterations in Zmpste24 metalloproteinase-deficient mice. Nat Genet 2002; 31: 94-99.
6. Cao K, Capell BC, Erdos MR, Djabali K, Collins FS: A lamin A protein isoform overexpressed in Hutchinson-Gilford progeria syndrome interferes with mitosis in progeria and normal cells. Proc Natl Acad Sci USA 2007; 104: 4949-4954. (Pubitemid 47186157)
7. Dechat T, Shimi T, Adam SA et al: Alterations in mitosis and cell cycle progression caused by a mutant lamin A known to accelerate human aging. Proc Natl Acad Sci USA 2007; 104: 4955-4960. (Pubitemid 47186158)
8. Goldman RD, Shumaker DK, Erdos MR et al: Accumulation of mutant lamin A causes progressive changes in nuclear architecture in Hutchinson-Gilford progeria syndrome. Proc Natl Acad Sci USA 2004; 101: 8963-8968. (Pubitemid 38781594)
9. Delbarre E, Tramier M, Coppey-Moisan M, Gaillard C, Courvalin JC, Buendia B: The truncated prelamin A in Hutchinson-Gilford progeria syndrome alters segregation of Atype and B-type lamin homopolymers. Hum Mol Genet 2006; 15: 1113-1122.
10. Coutinho HD, Falcão-Silva VS, Gonçalves GF, da Nóbrega RB: Molecular ageing in progeroid syndromes: Hutchinson-Gilford progeria syndrome as model. Immun Ageing 2009; 6: 4.
11. Cao H, Hegele RA: LMNA ist mutated in Hutchinson-Gilford progeria (MIM176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090). J Hum Genet 2003; 48: 271-274. (Pubitemid 36759489)
12. Moulson CL, Fong LG, Gardner JM et al: Increased progerin expression associated with unusual LMNA mutations causes severe progeroid syndromes. Hum Mutat 2007; 28: 882-889. (Pubitemid 47579938)
13. Rasband WS. ImageJ, U. S. National Institutes of Health, Bethesda, Maryland, USA, http://imagej.nih.gov/ij/ 1997-2011.
14. Scaffidi P, Misteli T: Lamin A-dependent nuclear defects in human aging. Science 2006; 312: 1059-1063.
15. Sevenants L, Wouters C, De Sandre-Giovannoli A et al: Tight skin and limited joint movements as early presentation of Hutchinson-Gilford progeria in a 7-week-old infant. Eur J Pediatr 2005; 164: 283-286. (Pubitemid 40603310)
16. Crow JF: The origins, patterns and implications of human spontaneous mutation. Nat Rev Genet 2000; 1: 40-47.
17. D'Apice MR, Tenconi R, Mammi I, van den Ende J, Novelli G: Paternal origin of LMNA mutations in Hutchinson-Gilford progeria. Clin Genet 2004; 65: 52-54. (Pubitemid 38111403)
18. Wuyts W, Biervliet M, Reyniers E, D'Apice MR, Novelli G, Storm K: Somatic and gonadal mosaicism in Hutchinson-Gilford progeria. Am J Med Genet A 2005; 135: 66-68. (Pubitemid 40627666)
19. Fong LG, Ng JK, Lammerding J et al: Prelamin A and lamin A appear to be dispensable in the nuclear lamina. J Clin Invest 2006; 116: 632-634.
20. Yang SH, Andres DA, Spielmann HP, Young SG, Fong LG: Progerin elicits disease phenotypes of progeria in mice whether or not it is farnesylated. J Clin Invest 2008; 118: 3291-3300.
21. Yang SH, Chang SY, Ren S et al: Absence of progeria-like disease phenotypes in knockin mice expressing a non-farnesylated version of progerin. Hum Mol Genet 2011; 20: 436-444.
22. Sullivan T, Escalante-Alcalde D, Bhatt H et al: Loss of A-type lamin expression compromises nuclear envelope integrity leading to muscular dystrophy. J Cell Biol 1999; 147: 913-919.
23. Davies BS, Barnes 2nd RH, Tu Y et al: An accumulation of non-farnesylated prelamin A causes cardiomyopathy but not progeria. Hum Mol Genet 2010; 19: 2682-2694.
24. Oh YS, Kim DG, Kim G et al: Downregulation of lamin A by tumor suppressor AIMP3/ p18 leads to a progeroid phenotype in mice. Aging Cell 2010; 9: 810-822.
25. Columbaro M, Capanni C, Mattioli E et al: Rescue of heterochromatin organization in Hutchinson-Gilford progeria by drug treatment. Cell Mol Life Sci 2005; 62: 2669-2678. (Pubitemid 41721238)
26. Eng L, Coutinho G, Nahas S et al: Nonclassical splicing mutations in the coding and noncoding regions of the ATM gene: maximum entropy estimates of splice junction strengths. Hum Mutat 2004; 23: 67-76. (Pubitemid 38056103)
27. Yeo G, Burge CB: Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals. J Comput Biol 2004; 11: 377-394. (Pubitemid 38901668)
28. Conboy JG, Dubchak I: Alternative splicing in humans. Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics. London: Wiley, 2005.
29. Broers JL, Raymond Y, Rot MK, Kuijpers H, Wagenaar SS, Ramaekers FC: Nuclear Atype lamins are differentially expressed in human lung cancer subtypes. Am J Pathol 1993; 143: 211-220. (Pubitemid 24058175)
30. Machiels BM, Broers JL, Raymond Y et al: Abnormal A-type lamin organization in a human lung carcinoma cell line. Eur J Cell Biol 1995; 67: 328-335.
31. Miranda M, Chacón MR, Gutiérrez C et al: LMNA mRNA expression is altered in human obesity and type 2 diabetes. Obesity (Silver Spring) 2008; 16: 1742-1748.
32. Pugh GE, Coates PJ, Lane EB, Raymond Y, Quinlan RA: Distinct nuclear assembly pathways for lamins A and C lead to their increase during quiescence in Swiss 3T3 cells. J Cell Sci 1997; 110: 2483-2493. (Pubitemid 127699162)