Altered chromatin organization and SUN2 localization in mandibuloacral dysplasia are rescued by drug treatment

Histochemistry and Cell Biology

Volumn 138, Issue 4, 2012, Pages 643-651

  Camozzi, Daria ^a   D'Apice, Maria Rosaria ^b   Schena, Elisa ^c   Cenni, Vittoria ^a   Columbaro, Marta ^c   Capanni, Cristina ^a   Maraldi, Nadir M ^a,c   Squarzoni, Stefano ^a   Ortolani, Michela ^a   Novelli, Giuseppe ^b,d,e   Lattanzi, Giovanna ^a  

^a CNR   (Italy)

^b UNIVERSITY OF ROME TOR VERGATA   (Italy)

^c RIZZOLI ORTHOPAEDIC INSTITUTE   (Italy)

^d Responsable for National Scientific Habilitation   (Italy)

^e FATEBENEFRATELLI HOSPITAL   (Italy)

Author keywords

Heterochromatin defects; Mandibuloacral dysplasia type A (MADA); Prelamin A forms; Statins; SUN2; Trichostatin A

Indexed keywords

HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE INHIBITOR; LAMIN A; MEVINOLIN; PRELAMIN A PROTEIN; PROTEIN; SUN1 PROTEIN; SUN2 PROTEIN; TRICHOSTATIN A; UNCLASSIFIED DRUG;

ARTICLE; BONE DYSPLASIA; CELL DIFFERENTIATION; CELL LINE; CELL NUCLEUS MEMBRANE; CENTROSOME; CHROMATIN ASSEMBLY AND DISASSEMBLY; CYTOSKELETON; FEEDBACK SYSTEM; FIBROBLAST; GENE MUTATION; HUMAN; HUMAN CELL; LAMINOPATHY; MANDIBULOACRAL DYSPLASIA TYPE A; PRIORITY JOURNAL; PROTEIN FUNCTION; PROTEIN PROCESSING;

ACRO-OSTEOLYSIS; BLOTTING, WESTERN; CELLS, CULTURED; CHROMATIN ASSEMBLY AND DISASSEMBLY; FIBROBLASTS; FLUORESCENT ANTIBODY TECHNIQUE; HUMANS; HYDROXYMETHYLGLUTARYL-COA REDUCTASE INHIBITORS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; LIPODYSTROPHY; LOVASTATIN; MANDIBLE; MEMBRANE PROTEINS; NUCLEAR ENVELOPE; NUCLEAR PROTEINS; PROTEIN PRECURSORS; PROTEIN PROCESSING, POST-TRANSLATIONAL; SKIN;

EID: 84867331151     PISSN: 09486143     EISSN: 1432119X     Source Type: Journal    
DOI: 10.1007/s00418-012-0977-5     Document Type: Article

References (30)

1. Avnet S, Pallotta R, Perut F, Baldini N, Pittis MG, Saponari A, Lucarelli E, Dozza B, Greggi T, Maraldi NM, Capanni C, Mattioli E, Columbaro M, Lattanzi G (2011) Osteoblasts from a mandibuloacral dysplasia patient induce human blood precursors to differentiate into active osteoclasts. Biochim Biophys Acta 1812(7):711-718
2. Capanni C, Mattioli E, Columbaro M, Lucarelli E, Parnaik VK, Novelli G, Wehnert M, Cenni V, Maraldi NM, Squarzoni S et al (2005) Altered pre-lamin A processing is a common mechanism leading to lipodystrophy. Hum Mol Genet 14(11):1489-1502
3. Columbaro M, Capanni C, Mattioli E, Novelli G, Parnaik VK, Squarzoni S, Maraldi NM, Lattanzi G (2005) Rescue of heterochromatin organization in Hutchinson-Gilford progeria by drug treatment. Cell Mol Life Sci 62(22):2669-2678
4. Columbaro M, Mattioli E, Schena E, Capanni C, Cenni V, Levy N, Navarro CL, Del Coco R, Squarzoni S, Camozzi D et al (2010) Prelamin A processing and functional effects in restrictive dermopathy. Cell Cycle 9(23):4766-4768
5. Crisp M, Liu Q, Roux K, Rattner JB, Shanahan C, Burke B, Stahl PD, Hodzic D (2006) Coupling of the nucleus and cytoplasm: role of the LINC complex. J Cell Biol 172(1):41-53
6. Davies BS, Coffinier C, Yang SH, Barnes RH 2nd, Jung HJ, Young SG, Fong LG (2011) Investigating the purpose of prelamin A processing. Nucleus 2(1):4-9
7. Dominici S, Fiori V, Magnani M, Schena E, Capanni C, Camozzi D, D'Apice MR, Le Dour C, Auclair M, Caron M et al (2009) Different prelamin A forms accumulate in human fibroblasts: a study in experimental models and progeria. Eur J Histochem 53(1):43-52
8. Duque G, Vidal C, Rivas D (2011) Protein isoprenylation regulates osteogenic differentiation of mesenchimal stem cells: effect of alendronate and farnesyl and geranylgeranyl transferase inhibitors. Br J Pharamacol 162(5):1109-1118
9. Filesi I, Gullotta F, Lattanzi G, D'Apice MR, Capanni C, Nardone AM, Columbaro M, Scarano G, Mattioli E, Sabatelli P et al (2005) Alterations of nuclear envelope and chromatin organization in mandibuloacral dysplasia, a rare form of laminopathy. Physiol Genomics 23(2):150-158
10. Folker ES, Ostlund C, Luxton GW, Worman HJ, Gundersen GC (2011) Lamin A variants that cause striated muscle diseases are defective in anchoring transmembrane actin-Associated nuclear lines for nuclear movement. Proc Natl Acad Sci USA 108(1):131-136
11. Galiova G, Bartova E, Raska I, Krejci J, Kozubek (2008) Chromatin changes induced by lamin A/C deficiency and the histone deacetylase inhibitor trichostatin A. Eur J Cell Biol 87(5):291-303
12. Hale CM, Shrestha AL, Khatau SB, Stewart-Hutchinson PJ, Hernandez L, Stewart CL, Hodzic D, Wirtz D (2008) Dysfunctional connections between the nucleus and the actin and microtubule networks in laminopathic models. Biophys J 95(11):5462-5475
13. Haque F, Lloyd DJ, Smallwood DT, Dent CL, Shanahan CM, Fry AM, Trembath RC, Shackleton S (2006) SUN1 interacts with nuclear lamin A and cytoplasmic nesprins to provide a physical connection between the nuclear lamina and the cytoskeleton. Mol Cell Biol 26(10):3738-3751
14. Haque F, Mazzeo D, Patel JT, Smallwood DT, Ellis JA, Shanahan CM, Shackleton S (2010) Mammalian SUN protein interaction networks at the inner nuclear membrane and their role in laminopathy disease processes. J Biol Chem 285(5):3487-3498
15. Larson K, Yan SJ, Tsurumi A, Liu J, Zhou J, Gaur K, Guo D, Eickbush TH, Li WX (2012) Heterochromatin formation promotes longevity and represses ribosomal RNA synthesis. PLoS Genet 8(1):e1002473
16. Lattanzi G, Columbaro M, Mattioli E, Cenni V, Camozzi D, Wehnert M, Santi S, Riccio M, Del Coco R, Maraldi NM et al (2007) Prelamin A processing is linked to heterochromatin organization. J Cell Biochem 102(5):1149-1159
17. Lombardi F, Gullotta F, Columbaro M, Filareto A, D'Adamo M, Vielle A, Guglielmi V, Nardone AM, Azzolini V, Grosso E et al (2007) Compound heterozygosity for mutations in LMNA in a patient with a myopathic and lipodystrophic mandibuloacral dysplasia type A phenotype. J Clin Endocrinol Metab 92(11):4467-4471
18. Luxton GC, Gomes ER, Folker ES, Worman HJ, Gundersen GC (2011) TAN lines: a novel nuclear envelope structure involved in nuclear positioning. Nucleus 2(3):173-181
19. Maraldi NM, Lattanzi G (2007) Involvement of prelamin A in laminopathies. Crit Rev Eukaryot Gene Expr 17(4):317-334
20. Maraldi NM, Capanni C, Cenni V, Fini M, Lattanzi G (2011) Laminopathies and lamin-Associated signaling pathways. J Cell Biochem 112(4):979-992
21. Mattioli E, Columbaro M, Capanni C, Santi S, Maraldi NM, D'Apice MR, Novelli G, Riccio M, Squarzoni S, Foisner R et al (2008) Drugs affecting prelamin A processing: effects on heterochromatin organization. Exp Cell Res 314(3):453-462
22. Mattioli E, Columbaro M, Capanni C, Maraldi NM, Cenni V, Scotlandi K, Marino MT, Merlini L, Squarzoni S, Lattanzi G (2011) Prelamin A-mediated recruitment of SUN1 to the nuclear envelope directs nuclear positioning in human muscle. Cell Death Differ 18(8):1305-1315
23. Mejat A, Decostre V, Li J, Renou L, Kesari A, Hantai D, Stewart CL, Xiao X, Hoffman E, Bonne G et al (2009) Lamin A/C-mediated neuromuscular junction defects in Emery-Dreifuss muscular dystrophy. J Cell Biol 184(1):31-44
24. Novelli G, Muchir A, Sangiuolo F, Helbling-Leclerc A, D'Apice MR, Massart C, Capon F, Sbraccia P, Federici M, Lauro R et al (2002) Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C. Am J Hum Genet 71(2):426-431
25. Richards SA, Muter J, Ritchie P, Lattanzi G, Hutchison CJ (2011) The accumulation of un-repairable DNA damage in laminopathy progeria fibroblasts is caused by ROS generation and is prevented by treatment with N-Acetyl cysteine. Hum Mol Genet 20(20):3997-4004
26. Scaffidi P, Misteli T (2005) Reversal of the cellular phenotype in the premature aging disease Hutchinson-Gilford progeria syndrome. Nat Med 11(4):440-445
27. Schneider M, Lu W, Neumann S, Brachner A, Gotzmann J, Noegel AA, Karakesisoglou I (2010) Molecular mechanisms of centrosome and cytoskeleton anchorage at the nuclear envelope. Cell Mol Life Sci 68(9):1593-1610
28. Shumaker DK, Dechat T, Kohlmaier A, Adam SA, Bozovsky MR, Erdos MR, Eriksson M, Goldman AE, Khuon S, Collins FS et al (2006) Mutant nuclear lamin A leads to progressive alterations of epigenetic control in premature aging. Proc Natl Acad Sci USA 103(23):8703-8708
29. Starr DA (2009) A nuclear-envelope bridge positions nuclei and moves chromosomes. J Cell Sci 122(Pt 5):577-586
30. Zini N, Avnet S, Ghisu S, Maraldi NM, Squarzoni S, Baldini N, Lattanzi G (2008) Effects of prelamin A processing inhibitors on the differentiation and activity of human osteoclasts. J Cell Biochem 105(1):34-40