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Ultima descărcare din IBN: 2023-03-12 15:34 |
Căutarea după subiecte similare conform CZU |
617.7-007.681:575.1 (1) |
Științe medicale. Medicină (11143) |
Genetică generală. Citogenetică generală (427) |
SM ISO690:2012 LICHII, Ana-Maria. Primary congenital glaucoma – molecular - genetic mechanisms. In: Revista de Ştiinţe ale Sănătăţii din Moldova, 2022, nr. 3 An.1(29), p. 37. 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: 617.7-007.681:575.1 | ||||||
Pag. 37-37 | ||||||
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Background. Primary congenital glaucoma (GCP) is an eye condition caused by the abnormal development of aqueous humor drainage structures, characterized by increased intraocular pressure, enlargement of the eyeball, corneal edema, and changes of the optic nerve. Objective of the study. Carrying out a synthesis study of the specialized literature in the field of molecular – genetic aspects responsible for the occurrence of primary congenital glaucoma. Material and Methods. This study was based on the synthesis and analysis of literature from open access databases: Pubmed, Scopus; GoogleSchoolar, Hinari. Results. Genetic mapping of affected gene families has identified several chromosomal loci that cause primary congenital glaucoma: GLC3A (chromosome 2p22), GLC3B (chromosome 1p36.2 – p36.1), GLC3C (chromosome 14q24.3), GLC3D (chromosome 14q24.2-q24.3) and GLC3E (chromosome 9p21.2). Mutations have also been identified in the LTBP2 (14q24.3) genes encoding the latent – transforming growth factor 2 beta – binding and MYOC (14q23 – q24) encoding the myocilin protein for role in cytoskeleton organization and cell adhesion, TEK (tyrosine kinase receptor), COL1A1. Mutations in the CYP1B1 gene (missense, insertions and/or del) encoding the P450 protein with a role in the metabolism of endogenous molecules necessary for ocular development leading to autosomal recessive GCP have been shown to be a strong risk factor. Conclusion. Primary congenital glaucoma is a genetic disease caused by mutations in different genes (GLC3A, GLC3B, GLC3C, GLC3D, GLC3E, LTBP2, MYOC, TEK, COL1A1, CYP1B1) and population screening through genetic testing can reduce the incidence of the disease and can be helpful to clinicians for a personalized approach to treatment. |
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Cuvinte-cheie Genes, primary congenital glaucoma, chromosome, Mutation, gene, glaucomul congenital primar, cromozom, mutaţie |
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