Amelogenesis imperfecta (Al) is a genetic disorder that is inherited and caused by a recessive mutation. These mutations can affect primary and secondary dentition in those who have inherited this disorder. It affects tooth enamel formation by demineralization which is a disorder characterized by insufficient strength of the tooth when compared to normal teeth. This occurs when the teeth are demineralized to the next layer of the tooth called the dentin. When this occurs in the dentin, the tooth color may be less white and much more yellow-brown in visible light. There is associated weakness and sensitivity throughout the tooth and nerves of the tooth which can continue to weaken throughout life. This disorder can lead to edentulism, a condition of toothlessness if it is not addressed. Three phenotypes can help with diagnosing this disorder, the first is demineralization; which is when organic materials convert to inorganic materials weakening the tooth. Another phenotype is hypo-calcification, which is when tooth enamel is present but is very weak and has a rough surface, however, it can still lead to wear of the tooth enamel quite rapidly once the tooth has erupted. The last phenotype is hypo-maturity, during the development of the tooth, the translation of proteins is not properly removed during the enamel matrix which leads to failure of the completion in the hardening of the enamel layer. When analyzing and diagnosing, a dentist can verify this disorder through three distinctive stages: presecretory, secretory, and maturation which are considered the functional stages. In the first stage, the characteristics of ameloblasts are developed and a protein synthetic apparatus is present to secrete the enamel within the organic matrix. The second stage is the secretory stage in which the thickness of the enamel is secreted by the ameloblasts, the hydroxyapatite crystals are separated by the organic contents and water. The third stage is the maturation stage, this is when the inorganic ions of the ameloblasts are switched for the organic contents and water, which causes the thickness of the enamel to become pris-shaped.
Because so many people have been affected, by this disorder, there is need for more research in order for further treatment. I feel that as a future dentist, I’d like to do research for treatment and possible supplement intake that would help strengthen teeth so many wouldn’t have to go through the many side effects that eventually leads to being toothless.
Fonseca, R. B., Sobrinho, L. C., Neto, A. J. F., Mota, A. S., & Soares, C. J. (2006). Enamel hypoplasia or amelogenesis imperfecta-a restorative approach. Brazilian Journal of Oral Sciences, 5(16), 941-943. http://doi.org/10.20396/bjos.v5i16.8641869
This is a very interesting topic that I did not really know about, but it does make me question whether it has other effects on the human body, other than tooth eruption because it is genetic? In this article that I found that it showed that amelogenesis imperfecta can lead to diagnostics in cancer of a person. This article talked about, https://onlinelibrary.wiley.com/doi/abs/10.1111/cge.13892#:~:text=Tooth%20agenesis%20(missing%20one%20or,are%20associated%20with%20tooth%20agenesis, about the possibility to look at the therapy of tumors identifying cancer before it becomes worse in the patient, as this genetic disorder can lead to the discovement of other disease in the body.
ReplyDeleteThis topic is both informative and interesting. The way you describe the intricacies of this genetic disorder, particularly its impact on tooth enamel formation and the subsequent challenges it poses, is enlightening. The three distinct phenotypes you outlined for diagnosing AI offer valuable insights for understanding and addressing this condition. I wonder if there are any current treatments and how they could be improved.
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