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319 3 |
Ultima descărcare din IBN: 2024-04-18 08:35 |
Căutarea după subiecte similare conform CZU |
616.71-007.234:575.1 (1) |
Pathology of the organs of locomotion. Skeletal and locomotor systems (493) |
General genetics. General cytogenetics (436) |
SM ISO690:2012 NICOARĂ, Nicoleta. Genetic aspects of osteoporosis. In: Revista de Ştiinţe ale Sănătăţii din Moldova, 2022, nr. 3 An.1(29), p. 15. ISSN 2345-1467. |
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Revista de Ştiinţe ale Sănătăţii din Moldova | ||||||
Numărul 3 An.1(29) / 2022 / ISSN 2345-1467 | ||||||
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CZU: 616.71-007.234:575.1 | ||||||
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Background. Osteoporosis (OP) is an extremely heterogeneous multifactorial pathology, characterized by decreased bone density and risk of pathological fractures. Studies point out a strong genetic determinism of the disease, with multiple gene polymorphisms and predisposing mutations. Objective of the study. Assessing the share of genetic and environmental factors in the development and progression of OP. Material and Methods. Analysis of literature in the field, scientific articles PubMed and OxfordAcademic on the etiology and pathophysiology of OP. Results. Bone metabolism requires a constant balance determined by gene expression, environmental conditions and tissue needs. Genomic studies have identified about 300 susceptibility genes in OP encoding: extracellular matrix components (COL1A1 and 2, OPN), hormones and their receptors (ESR1 and 2, AR, VDR, CASR, PTHR1, CYP1A1, PRL, PTH, LEP, INS), participants in osteoblastogenic/osteoclastogenic processes (ALOX12 and 15, BMP4 and 7, IGF-1, LRP5 and 6, SOST/ P53, RANK, RANK-L), cytokines and their receptors (IL1 and 6, TNF, TNFR2 ). It should be noted that the expression of these genes is ubiquitous and is not limited to bone tissue, which explains the multisystem damage. Conclusion. Mutations in the genes involved in controlling bone turnover determine the predisposition to OP, while the environmental factors can trigger the development of the disease. Understanding the role of genes in the pathogenesis of OP promotes the development of targeted treatments for most forms of osteoporosis. |
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Cuvinte-cheie osteoporosis, Bone mineral density, pathological fractures, osteoporoza, densitate minerală osoasă, fracturi patologice |
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