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A genética da amelogénese imperfeita não sindrómica: revisão narrativa
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Abstract(s)
A Amelogénese Imperfeita (AI) é um distúrbio hereditário raro que compromete a qualidade e a quantidade do esmalte dentário.A amelogénese é o processo de formação do esmalte dentário e pode ser subdividida em três estágios: secreção, transição e maturação. Fatores genéticos e ambientais que afetem qualquer um dos estágios da amelogénese podem causar vários tipos de defeitos no esmalte: esmaltehipoplásico, hipocalcificado e hipomaturado.As principais proteínas da matriz do esmalte são: amelogenina,enamelina e a ameloblastina, e as principais proteases são: metaloprotease-20 da matriz e a calicreína-4. Vários genes que codificam estas proteínas da matriz do esmalte e proteases associadas são essenciais para a amelogénese, e as suas mutações estão associadas a AI. São conhecidos até agora 20 genes com 298 mutações. Entre eles estão os 5 primeiros genes candidatos identificados: AMBN, AMELX, AMTN, ENAM, KLK4 e MMP20.A AI apresentou todos os padrões de hereditariedade: ligada ao X, autossómica dominante e autossómica recessiva. Este trabalho tem por objetivo realizar uma revisão de literatura que promova conhecimento dos genes assim como as mutações relacionadas com a AI não sindrómica de forma a evidenciar a importância da investigação genética para a etiologia da AI.
Amelogenesis imperfecta (AI) is a rare hereditary disorder that compromises the quality and quantity of tooth enamel. Amelogenesis is the process of tooth enamel formation and can be subdivided into three stages: secretion, transition and maturation. Genetic and environmental factors that affect any of the stages of amelogenesis can cause several types of enamel defects: hypoplastic, hypocalcified and hypomatured enamel. The main proteins of the enamel matrix are: amelogenin, enamelin and ameloblastin, and the main proteinases are: matrix metalloproteinase-20 and kallikrein-4. Several genes that encode these enamel matrix proteins and associated proteinases are essential for amelogenesis, and their mutations are associated with AI. So far, 20 genes with 298 mutations are known. Among them are the first 5 candidate genes identified: AMBN, AMELX, AMTN, ENAM, KLK4 and MMP20.AI presented all heredity patterns: X-linked, autosomal dominant and autosomal recessive.This work aims to perform a literature review that promotes knowledge of genes as well as mutations related to non-syndromic AI in order to highlight the importance of genetic research for the etiology of AI.
Amelogenesis imperfecta (AI) is a rare hereditary disorder that compromises the quality and quantity of tooth enamel. Amelogenesis is the process of tooth enamel formation and can be subdivided into three stages: secretion, transition and maturation. Genetic and environmental factors that affect any of the stages of amelogenesis can cause several types of enamel defects: hypoplastic, hypocalcified and hypomatured enamel. The main proteins of the enamel matrix are: amelogenin, enamelin and ameloblastin, and the main proteinases are: matrix metalloproteinase-20 and kallikrein-4. Several genes that encode these enamel matrix proteins and associated proteinases are essential for amelogenesis, and their mutations are associated with AI. So far, 20 genes with 298 mutations are known. Among them are the first 5 candidate genes identified: AMBN, AMELX, AMTN, ENAM, KLK4 and MMP20.AI presented all heredity patterns: X-linked, autosomal dominant and autosomal recessive.This work aims to perform a literature review that promotes knowledge of genes as well as mutations related to non-syndromic AI in order to highlight the importance of genetic research for the etiology of AI.
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Keywords
Amelogénese imperfeita Esmalte dentário Genes Amelogenesis imperfecta Tooth enamel Genes