Лекции SDM 2024

09:00 - 13:00, 27 сеп (петък), 2024
Стая: B

"Амелогенезис имперфекта"

Проф. Фиген Сеймен

Amelogenesis Imperfecta (AI) is a collective designation for the variety of inherited conditions displaying isolated enamel malformations, but the designation is also used to indicate the presence of an enamel phenotype in syndromes. There is great variability in the clinical presentation of amelogenesis imperfecta. The clinical features of the affected enamel and the type of AI depend on the gene involved and the relevant mutation. Clinical phenotypes display a wide spectrum, ranging from mild color changes to severe structural alterations with daily pain. However, all affect the quality of life because of mechanical, psychological, esthetic, and/or social repercussions.
It will be possible to implement more accurate diagnostic methods and make a more precise prognosis if the clinical and radiographic appearance of the affected enamel can be correlated with the potential genetic origin of AI. The genetic control of amelogenesis is fully understood but requires the activities of multiple components that are uniquely important for dental enamel formation. Genetic studies have demonstrated the importance of genes encoding enamel matrix proteins in the etiology of isolated AI.
The biological processes and mechanisms leading to AI are many and varied. Further research with a molecular approach will improve our understanding of these mechanisms and identify new mutations or genes and this will result in improved patient care and the development of new therapies to minimize or eliminate the problems associated with AI.
This lecture will focus on our researches and the evidence about AI. We will review the genes and mutations underlying AI presenting in isolation from other health problems, the proteins they encode, and knowledge of their roles in amelogenesis, combining evidence from human phenotypes
The aim of this lecture is to present an evaluation of the studies regarding the role of the genes associated with AI types.