Clinical applications of molecular basis for Craniosynostosis. A narrative review.
Abstract
Cranial sutures are specialized structures composed of the sutural mesenchyme, the overlying scalp, the dura and osteogenic fronts. Each one of these structures express important proteins for osteogenic maturation, membranous ossification of skull bones, and homeostasis of cranial sutures in a differential, spatial and temporal manner. These proteins include fibroblast growth factor (FGF) and its receptors (FGFR), the transforming growth factor beta (TGF-β), bone morphogenetic proteins (BMPs), as well as transcription factors TWIST and MSX2, among others. The alteration in the expression of one or more of these proteins causes multiple pathological conditions, one of them is the premature closure of one or more cranial sutures, known as craniosynostosis. This malformation is commonly treated with surgery. However, advances in the fields of molecular and cellular biology have allowed to conduct research on some proteins involved in the development of craniosynostosis. The results of these studies can lead to future preventive therapeutic strategies that may be used as a complement to the surgical treatment of craniosynostosis. Possible strategies include the use of specific drugs that can regulate the expression and activation of FGF signaling pathways, TGF-β or BMPs, to prevent or avoid craniosynostosis or re-synostosis after a surgery.
References
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2. Jezela-Stanek A, Krajewska-Walasek M. Genetic causes of syndromic craniosynostoses. Eur J Ped Neurol. 2013;17(3):221-4.
3. Sorolla JP. Anomalías Craneofaciales. Rev Med Clin Condes. 2010;21(1):5-15.
4. Heuze Y, Holmes G, Peter I, Richtsmeier JT, Jabs EW. Closing the Gap: Genetic and Genomic Continuum from Syndromic to Nonsyndromic Craniosynostoses. Curr Genet Med Rep. 2014;2(3):135-45.
5. Senarath-Yapa K, Chung MT, McArdle A, Wong VW, Quarto N, Longaker MT, Wan DC. Craniosynostosis: molecular pathways and future pharmacologic therapy. Organogenesis. 2012;8(4):103-13.
6. Nagaraja S, Anslow P, Winter B. Craniosynostosis. Clin Radiol. 2013;68(3):284-92.
7. Rodgers A, Hopper N. Imaging in craniosynostosis. Arch Dis Child. 2014;99(1):73.
8. Agochukwu NB, Solomon BD, Muenke M. Impact of genetics on the diagnosis and clinical management of syndromic craniosynostoses. Childs Nerv Syst. 2012;28(9):1447-63.
9. Vargervik K, Rubin MS, Grayson BH, Figueroa AA, Kreiborg S, Shirley JC, Simmons K, Warren SM. Parameters of care for craniosynostosis: Dental and Orthodontic Perspectives. Am J Orthod Dentofacial Orthop. 2012;141(Suppl 4):S68-73.
10. Woods E, Parekh S, Evans R, Moles DR, Gill D. The dental development in patients with Aperts syndrome. Int J Paediatric Dent. 2015;25(2):136-43.
11. Baur EM. Correction of the Thumb in Apert Syndrome - Modified Dome Osteotomy and Bilobed Flap. Handchir Mikrochir Plast Chir. 2016;48(1):18-24.
12. Fadda MT, Ierardo G, Ladniak B, Di Giorgio G, Caporlingua A, Raponi I, Silvestri A. Treatment timing and multidisciplinary approach in Apert syndrome. Ann Stomatol (Roma). 2015;6(2):58-63.
13. Cho E, Yang TH, Shin ES, Byeon JH, Kim GM, Eun BL. Seathre-Chotzen syndrome with an atypical phenotype: identification of TWIST microdeletion by array CGH. Childs Nerv Syst. 2013;29(11):2101-4
14. Derderian C, Seaward J. Syndromic craniosynostosis. Semin Plast Surg. 2012;26(2):64-75.
15. Pagnoni M, Fadda MT, Spalice A, Amodeo G, Ursitti F, Mitro V, Iannetti G. Surgical timing of craniosynostosis: what to do and when. J Craniomaxillofac Surg. 2014;42(5):513-9.
16. Padilla IP, Ferri FB.; Juárez PI.; Gómez PR.; Perales MA. Craneosinostosis: diagnóstico intraútero y evoluación posnatal. Clin Invest Gin Obst. 2015;42(2):75-8.
17. Spaggiari E, Aboura A, Sinico M, Mabboux P, Dupont C, Delezoide AL, Guimiont F. Prenatal diagnosis of a 7p15-p21 deletion encompassing the TWIST1 gene involved in Saethre-Chotzen syndrome. Eur J Med Genet. 2012;55(8-9):498-501.
18. Grillo L, Greco D, Pettinato R, Avola E, Potenza N, Castiglia L, Spalleta A, Amata S, Di Benedetto D, Luciano D, Romano C, Fichera M. Increased FGF3 and FGF4 gene dosage is a risk factor for craniosynostosis. Gene. 2014;534(2):435-9.
19. Chen CP, Chen M, Chen CY, Chern SR, Wu PS, Chang SP, Pan CW, Wang W. Prenatal diagnosis and molecular cytogenetic characterization of de novo pure partial trisomy 6p associated with microcephaly, craniosynostosis and abnormal maternal serum biochemistry. Gene. 2014;536(2):425-9.
20. Branson HM, Shroff MM. Craniosynostosis and 3-dimensional computed tomography. Semin Ultrasound CT MR. 2011;32(6):569-77.
21. Mathijssen IM. Guideline for Care of Patients With the Diagnoses of Craniosynostosis: Working Group on Craniosynostosis. J Craniofac Surg. 2015;26(6):1735-807.
22. Ysunza PA, Repetto GM, Pamplona MC, Calderon JF, Shaheen K, Chaiyasate K, Rontal M. Current Controversies in Diagnosis and Management of Cleft Palate and Velopharyngeal Insufficiency. Biomed Res Int. 2015;15:1-11.
23. Teven CM, Farina EM, Rivas J, Reid RR. Fibroblast growth factor (FGF) signaling in development and skeletal diseases. Genes Dis. 2014;1(2):199-213.
24. Maxhimer JB, Bradley JP, Lee JC. Signaling pathways in osteogenesis and osteoclastogenesis: Lessons from cranial sutures and applications to regenerative medicine. Genes Dis. 2015;2(1):57-68.
25. Simoes-Costa M, Bronner ME. Establishing neural crest identity: a gene regulatory recipe. Development. 2015;142(2):242-57.
26. Morriss-Kay GM, Iseki S, Johnson D. Genetic control of the cell proliferation-differentiation balance in the developing skull vault: roles of fibroblast growth factor receptor signalling pathways. Novartis Found Symp. 2001;232:102-16;16-21.
27. Kwiatkowski W, Gray PC, Choe S. Engineering TGF-beta superfamily ligands for clinical applications. Trends Pharmacol Sci. 2014;35(12):648-57.
28. Bouletreau PJ, Steinbrech D, Spector JA, Warren SM, Greenwald JA, Mehrara BJ, Detch BC, Longaker MT. Gene expression of transforming growth factor-beta 3 and tissue inhibitor of metalloproteinase type 1 during membranous bone healing in rats. J Craniofac Surg. 2000;11(6):521-6.
29. Chim H, Manjila S, Cohen AR, Gosain AK. Molecular signaling in pathogenesis of craniosynostosis: the role of fibroblast growth factor and transforming growth factor-beta. Neurosurg Focus. 2011;31(2):E7.
30. Gilbert J, Karski M, Smith TD, Burrows AM, Norbutt C, Siegel MI, Costello BJ, Cray JJ, osee JE, Moursi AM, Cooper GM, Mooney MP. Transforming Growth Factor-beta3 Therapy Delays Postoperative Reossification and Improves Craniofacial Growth in Craniosynostotic Rabbits. Cleft Palate Craniofac J. 2016;53(2):210-21.
31. Brazil DP, Church RH, Surae S, Godson C, Martin F. BMP signalling: agony and antagony in the family. Trends Cell Biol. 2015;25(5):249-64.
32. Carreira AC, Lojudice FH, Halcsik E, Navarro RD, Sogayar MC, Granjeiro JM. Bone morphogenetic proteins: facts, challenges, and future perspectives. J Dent Res. 2014;93(4):335-45.
33. Wang RN, Green J, Wang Z, Deng Y, Qiao M, Peabody M, Zhang Q, Ye J, Yan Z, Denduluri S, Idowu O, Li M, Shen C, Hu A, Haydon RC, Kang R, Mok J, Lee MJ, Luu HL, Shi LL. Bone Morphogenetic Protein (BMP) signaling in development and human diseases. Genes Dis. 2014;1(1):87-105.
34. Barati D, Shariati SR, Moeinzadeh S, Melero-Martin JM, Khademhosseini A, Jabbari E. Spatiotemporal release of BMP-2 and VEGF enhances osteogenic and vasculogenic differentiation of human mesenchymal stem cells and endothelial colony-forming cells co-encapsulated in a patterned hydrogel. J Cont Release. 2016;223:126-36.
35. Kosty J, Vogel TW. Insights into the development of molecular therapies for craniosynostosis. Neurosurg Focus. 2015;38(5):E2.
36. Saeed H, Qiu W, Li C, Flyvbjerg A, Abdallah BM, Kassem M. Telomerase activity promotes osteoblast differentiation by modulating IGF-signaling pathway. Biogerontology. 2015;16(6):733-45.
37. Patil AS, Sable RB, Kothari RM. Role of insulin-like growth factors (IGFs), their receptors and genetic regulation in the chondrogenesis and growth of the mandibular condylar cartilage. J Cell Physiol. 2012;227(5):1796-804.
38. Smith TJ, Hegedus L, Douglas RS. Role of insulin-like growth factor-1 (IGF-1) pathway in the pathogenesis of Graves' orbitopathy. Best Pract Res Clin Endocrinol Metab. 2012;26(3):291-302.
39. Zou X, Shen J, Chen F, Ting K, Zheng Z, Pang S, Zara J, Adams JS, Soo C, Zhang X. NELL-1 binds to APR3 affecting human osteoblast proliferation and differentiation. FEBS Lett. 2011;585(15):2410-8.
40. Lenton KA, Nacamuli RP, Wan DC, Helms JA, Longaker MT. Cranial suture biology. Curr Top Dev Biol. 2005;66:287-328.
41. Zhang X, Kuroda S, Carpenter D, Nishimura I, Soo C, Moats R, LidaK, Wisner E, Hu FY, Miao S, Beanes S, Dang C, Vastadis H, Longaker M, Tanizawa K, Kanayama N, Saito N, Ting K. Craniosynostosis in transgenic mice overexpressing Nell-1. J Clin Invest. 2002;110(6):861-70.
42. Liu B, Yu HM, Hsu W. Craniosynostosis caused by Axin2 deficiency is mediated through distinct functions of beta-catenin in proliferation and differentiation. Dev Biol. 2007;301(1):298-308.
43. Florisson JM, Verkerk AJ, Huigh D, Hoogeboom AJ, Swagemakers S, Kremer A, Heijsman D, Lequin MH, Mathijssen IM, Van Der Spek PJ. Boston type craniosynostosis: report of a second mutation in MSX2. Am J Med Genet A. 2013;161A(10):2626-33.
44. Atsawasuwan P, Lu X, Ito Y, Zhang Y, Evans CA, Luan X. Ameloblastin inhibits cranial suture closure by modulating MSX2 expression and proliferation. Plos One. 2013;8(4):e52800.
45. Melville H, Wang Y, Taub PJ, Jabs EW. Genetic basis of potential therapeutic strategies for craniosynostosis. Am J Med Genet A. 2010;152A(12):3007-15.
46. Adetayo OA, Haider S, Adamo MA, Ehlers MA. Craniosynostosis reconstruction in patients with cyanotic heart defects-risk factors for venous air embolism and overview of preventative strategies. Paediatr Anaesth. 2015;25(7):754-5.
47. Nagy L, Demke JC. Craniofacial anomalies. Facial Plast Surg Clin North Am. 2014;22(4):523-48.
48. Oberoi S, Hoffman WY, Vargervik K. Craniofacial team management in Apert syndrome. Am J Orthod Dentofacial Orthop. 2012;141(4 Suppl):S82-7.
49. Ohtani J, Hoffman WY, Vargervik K, Oberoi S. Team management and treatment outcomes for patients with hemifacial microsomia. Am J Orthodon Dentofacial Orthop. 2012;141(4 Suppl):S74-81.
50. McCarthy JG, Warren SM, Bernstein J, Burnett W, Cunningham ML, Edmond JC, Figueroa AA, Kapp-Simon KA, Labow BI, Peterson-Falzone SJ, Proctor MR, Rubin MS, Sze RW, Yemen TA. Parameters of care for craniosynostosis. Cleft Palate Craniofac J. 2012;49 Suppl:1S-24S.
51. Yokota M, Kobayashi Y, Morita J, Suzuki H, Hashimoto Y, Sasaki Y, Akiyoshi K, Moriyama K. Therapeutic effect of nanogel-based delivery of soluble FGFR2 with S252W mutation on craniosynostosis. Plos One. 2014;9(7):e101693.
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Published
2016-04-22
How to Cite
CIFUENTES-MENDIOLA, Saúl Ernesto et al.
Clinical applications of molecular basis for Craniosynostosis. A narrative review..
Journal of Oral Research, [S.l.], v. 5, n. 3, p. 124-134, apr. 2016.
ISSN 0719-2479.
Available at: <https://www.joralres.com/index.php/JOralRes/article/view/joralres.2016.027>. Date accessed: 03 may 2024.
doi: https://doi.org/10.17126/joralres.2016.027.
Issue
Section
Reviews
Keywords
craniosynostosis; sutures; molecular therapy.
This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY 4.0). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. © 2024.
