Rare diseases of the genodermatosis type: a focus for tissue engineering
DOI:
https://doi.org/10.33448/rsd-v12i5.41829Keywords:
Skin diseases, genetic; Biocompatible materials; Skin diseases, vesiculobullous; Biomedical technology.Abstract
In Brazil, the Ministry of Health considers rare diseases that affect up to 65 people in every 100,000 individuals. Among these diseases are the genodermatoses, which constitute a heterogeneous group of diseases that primarily or exclusively affect the skin. Difficult to diagnose, the treatment is often ineffective. This mini bibliographic review aims to discuss the true potential of tissue engineering in the treatment of rare diseases. It is worth noting that regenerative medicine and tissue engineering have facilitated the development of therapeutic alternatives for replacing and/or repairing affected areas in these patients, including the use of biomaterials and specific cell types. Biomaterials must be biocompatible, bioresorbable, mechanical compatible with the target site, and provide adequate support to enable the growth of new tissue in vivo and in vitro, as well as facilitate the transport of biomolecules to induce cellular responses. Cells, on the other hand, must have differentiation potential and function as if they were in their natural environment. Tissue engineering can contribute to the treatment of rare diseases in two ways: 1) by developing devices that can mimic the function of affected tissues and aid in drug screening, and 2) by creating structures that can be directly used in therapeutic processes. Therefore, there is a genuine potential for the application of tissue engineering in the treatment of rare diseases. This review can be valuable, even as a starting point for researchers working in this field.
References
Aureliano, W. A. (2018). Trajetórias Terapêuticas Familiares: doenças raras hereditárias como sofrimento de longa duração. Ciência & Saúde Coletiva, 23(2), 369-379.
Baudequin, T., & Tabrizian, M. (2018). Multilineage constructs for scaffold-based tissue engineering: A review of tissue-specific challenges. Advanced Healthcare Materials, 7(3), 1700734.
Bardhan, A., Bruckner-Tuderman, L., Chapple, I. L. C., Fine, J. D., Harper, N., Has, C., Magin, T. M., Marinkovich, M. P., Marshall, J. F., McGrath, J. A., Mellerio, J. E., Polson, R., & Heagerty, A. H. (2020). Epidermolysis bullosa. Nature Reviews Disease Primers, 6(1), 1-27.
Bauer, J. W., Schmuth, M., & Bodemer, C. (2019). A focus on rare and undiagnosed skin diseases. Experimental Dermatology, 28(10), 1103-1105.
Bich, L., Pradeu, T., & Moreau, J. F. (2019). Understanding Multicellularity: The Functional Organization of the Intercellular Space. Frontiers in Physiology, 18(10), 1170.
Blumenrath, S. H., Lee, B. Y., Low, L., Prithviraj, R., & Tagle, D. (2020). Tackling rare diseases: Clinical trials on chips. Experimental Biology and Medicine, 245(13), 1155-1162.
Brasil (2014). Ministério da Saúde. Portaria GM nº 199, de 30 de janeiro de 2014. Institui a Política Nacional de Atenção Integral às Pessoas com Doenças Raras, aprova as Diretrizes para Atenção Integral às Pessoas com Doenças Raras no âmbito do Sistema Único de Saúde (SUS) e institui incentivos financeiros de custeio. Diário Oficial de União 2014; https://bvsms.saude.gov.br/bvs/saudelegis/gm/2014/prt0199_30_01_2014.html.
Brasil (2016). Ministério da Saúde. Grupo de Trabalho Interinstitucional sobre órteses, próteses e materiais especiais (GTIOPME). Relatório Final. http://portalarquivos.saude.gov.br/images/pdf/2015/julho/07/Relatorio-Final-ver- sao-final-6-7-2015.pdf.
Brasil (2017). Resolução de diretoria colegiada – RDC n° 205, de 28 de dezembro de 2017. Ministério da Saúde. https://bvsms.saude.gov.br/bvs/saudelegis/anvisa/2017/rdc0205_28_12_2017.pdf.
Brasil (2021). Ministério da Saúde. Doenças raras. Lei nº 14.154, de 26 de maio de 2021. Altera a Lei nº 8.069, de 13 de julho de 1990 (Estatuto da Criança e do Adolescente. https://www.ciespi.org.br/media/files/fcea049a8ec4d511ecbe6e5141d3afd01c/fee42d8e6f62411ecbe6e5141d3afd01c/lei-no-14-154.pdf.
Chaudhari, A. A., Vig, K., Baganizi, D. R., Sahu, R., Dixit, S., Dennis, V., Singh, S. R., & Pillai, S. R. (2016). Future prospects for scaffolding methods and biomaterials in skin tissue engineering: A review. International Journal of Molecular Sciences, 17(12), 1974.
Cuminale, N. (2022). Doenças raras: Falta de tratamento aumenta em 21% custo anual por paciente. https://futurodasaude.com.br/doencas-raras-falta-de-tratamento-aumenta-em-21-custo-anual-por-paciente/#:~:text=Ao%20comparar%20os%20custos%20de,de%20d%C3%B3lares%20para%20a%20sociedade.
de Mello, C. P .P., Rumsey, J., Slaughter, V., & Hickman, J. J. (2019). A human-on-a-chip approach to tackling rare diseases. Drug Discovery Today, 24(11), 2139-2151.
El Hachem, M., Giancristoforo, S., & Diociaiuti, A. (2014). Inherited epidermolysis bullosa. Giornale Italiano di Dermatologia e Venereologia, 149(6),651-662.
European Commission (2021). Rare diseases. Retrieved September 27, 2022, from https://health.ec.europa.eu/non-communicable-diseases/steering-group/rare-diseases_en.
Ferrari, S., Pellegrini, G., Matsui, T., Mavilio, F., & De Luca, M. (2006). Gene therapy in combination with tissue engineering to treat epidermolysis bullosa. Expert Opinion on Biological Therapy, 6(4), 367-378.
Fiori, F .C. B. C., Silvestre, M. C., Borges, C. B., Maciel, V. G., & Costa, M. B. (2011). Pênfigo foliáceo endêmico refratário na adolescência: sucesso terapêutico com imunoglobulina intravenosa. Anais Brasileiros de Dermatologia, 86(4, Suppl. 1), 133-136.
Forbes, S. J., & Rosenthal, N. (2014). Preparing the ground for tissue regeneration: from mechanism to therapy. Nature Medicine, 20(8), 857-869.
Giorno, L. P., Rodrigues, L. R., & Santos Jr, A. R. (2018). Métodos avançados para tratamento de queimaduras: uma revisão. Revista Brasileira de Queimaduras,17(1),60-65.
Giorno, L. P., Rodrigues, L. R., & Santos Jr, A. R. (2019). Biomedical graft technologies: An overview. Stem Cell Research and Therapeutics, 4, 135-141.
Giorno, L. P., Rodrigues, L. R., & Santos Jr, A. R. (2022). Characterization and in vitro analysis of a poly(ε-caprolactone)–gelatin matrix produced by rotary jet spinning and applied as a skin dressing. Polymer Bulletin, 79, 9131-9158.
Giorno, L. P., & Santos Jr, A. R. (2022). Skin: Injury, repair and tissue engineering. In: Berhart, L.V. (Ed.). Advances in Medicine and Biology, New York: Nova Science Plublisher, 190, 1-85.
Gürtler, T. G. R., Diniz, L. M., & Souza Filho, J. B. (2005). Epidermólise bolhosa distrófica recessiva mitis: relato de caso clínico. Anais Brasileiros de Dermatologia, 80(5), 503-508.
Haendel, M., Vasilevsky, N., Unni, D., Bologa, C., Harris, N., Rehm, H., Hamosh, A., Baynam, G., Groza, T., McMurry, J., Dawkins, H., Rath, A., Thaxon, C., Bocci, G., Joachimiak, M. P., Köhler, S., Robinson, P. N., Mungall, C., & Oprea, T. I. (2020). How many rare diseases are there? Nature Reviews Drug Discovery, 19(2), 77-78.
Hans-Filho, G., Aoki, V., Bittner, N. R. H., & Bittner, G. C. (2018). Fogo selvagem: endemic pemphigus foliaceus. Anais Brasileiros de Dermatologia, 93(5), 638-650.
Jiang, Z., Li, N., Zhu, D., Ren, L., Shao, Q., Yu, K., & Yang, G. (2021) Genetically modified cell sheets in regenerative medicine and tissue engineering. Biomaterials, 275, 120908.
Kommareddy, S., Shenoy, D. B., & Amiji, M. M. (2007). Gelatin nanoparticles and their biofunctionalization. In: Challa, S. S., Kumar, R. (eds), Nanotechnologies for the life sciences, 1. Biofunctionalization of Nanomaterials. Weinheim: Wiley, 330- 352.
Langer, R., & Vacanti, J. P. (1993). Tissue engineering. Science, 260, 920-926.
Langer, R., & Vacanti, J. P. (2016) Advances in tissue engineering. Journal of Pediatric Surgery, 51(1), 8-12.
Lanza, R. P., Langer, R. S., & Vacanti, J. (2020). Principles of Tissue Engineering; (5a ed.), Elsevier/Academic Press.
Lapteva, L., Vatsan, R., & Purohit-Sheth, T. (2018). Regenerative medicine therapies for rare diseases. Transl. Sci. Rare. Dis., 3(3-4),121-132.
Nyström, A., & Bruckner-Tuderman, L. (2018). Injury- and inflammation-driven skin fibrosis: The paradigm of epidermolysis bullosa. Matrix Biology, 68-69, 547-560.
Nyström, A., & Bruckner-Tuderman, L. (2019). Matrix molecules and skin biology. Seminars in Cell and Developmental Biology, 89, 136-146.
Oliveira, C. C. (2022) Artigo aborda as características e os desafios das doenças raras. Escola Nacional de Saúde Pública Sérgio Arouca, Fundação Oswaldo Cruz. Retrieved September 27, 2022, from https://portal.fiocruz.br/noticia/artigo-aborda-caracteristicas-e-os-desafios-das-doencas-raras.
Perić Kačarević, Ž., Rider, P., Alkildani, S., Retnasingh, S., Pejakić, M., Schnettler, R., Gosau, M., Smeets, R., Jung, O., & Barbeck, M. (2020). An introduction to bone tissue engineering. International Journal of Artificial Organs, 43(2), 69-86.
Pereira, R. F., Barrias, C. C., Granja, P. L., & Bartolo, P. J. (2013). Advanced biofabrication strategies for skin regeneration and repair. Nanomedicine, 8, 603-621.
Pinto, M., Madureira, A., Barros, L. B. P., Nascimento, M., Costa, A. C. C., Oliveira, N. V., Albernaz, L., Campos, D. S., Horovitz, D. D. G., Martins, A. J., & Moreira, M. C. N. (2019) Cuidado complexo, custo elevado e perda de renda: o que não é raro para as famílias de crianças e adolescentes com condições de saúde raras. Cadernos de Saúde Pública, 35(9), e00180218.
Sampaio, M. C. A., Oliveira, Z. N. P., & Miguelez, J. (2007) Diagnóstico pré-natal das genodermatoses. Anais Brasileiros de Dermatologia, 82(4), 353-358.
Santos Jr, A. R., & Zavaglia, C. A. C. (2016). Tissue Engineering Concepts. In: Hashmi, S. (Ed.), Reference Module in Materials Science and Materials Engineering, Oxford: Elsevier, 1-5.
Tonndorf, R., Aibibu, D., & Cherif, C. (2021). Isotropic and anisotropic scaffolds for tissue engineering: Collagen, conventional, and textile fabrication technologies and properties. International Journal of Molecular Sciences, 22, 9561.
Trajman, A. (2019). Doenças raras: quem paga qual conta? Cadernos de Saúde Pública, 35(9), e00145719.
USA. U.S. Government Printing Office. 107th Congress Public Law 280 (2002). To amend the Public Health Service act to establish an office of rare diseases at the National Institutes of Health, and for other purposes. In: Rare Diseases Act of 2002. https://www.congress.gov/107/plaws/publ280/PLAW-107publ280.pdf.
Vert, M., Doi, Y., Hellwich, K.-H., Hess, M., Hodge, P., Kubisa, P., Rinaudo, M., & Schué, F. (2012). Terminology for biorelated polymers and applications (IUPAC Recommendations 2012). Pure and Applied Chemistry, 84, 377-410.
Williams, D. F. (2009). On the nature of biomaterials. Biomaterials, 30, 5897-5909.
Zavaglia, C. A. C., & Silva, M. H. P. (2016). Feature Article: Biomaterials. In: Hashmi, S. (Ed.), Reference Module in Materials Science and Materials Engineering. Elsevier, 1-5.
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