Amelogenesis Imperfecta is an inherited condition affecting dental enamel. Amelogenesis Imperfecta enamel is often thin, soft and fragile, pitted and discoloured, causing patients embarrassment and discomfort. Amelogenesis Imperfecta may occur in the absence of other health problems or may be part of a condition affecting other tissues including eyes, ears or kidneys.
We know Amelogenesis Imperfecta is due to mutations in specific genes. However, we recognise that we cannot currently give a genetic explanation for many cases of Amelogenesis Imperfecta. The primary aim of this study is to identify genes that when mutated cause Amelogenesis Imperfecta. We propose to investigate families with at least one affected member with Amelogenesis Imperfecta. Understanding the pattern of inheritance from a family pedigree and the clinical phenotype will be critical to successful genetics studies.
We have brought together a team of geneticists, clinicians and biochemists to elucidate Amelogenesis Imperfecta disease mechanisms, identifying the genes and molecules responsible and the disease mechanisms underlying the clinical condition. We will use this information to improve understanding of biomineralisation events, to inform patient care and help develop new therapies and treatments for hard tissue disease. Feed back to patients and their families will help them understand the basis of their condition.
Clinical samples for the genetics studies will primarily involve saliva collection in commercially available Oragene kits or less commonly via blood tests. Where available, exfoliated teeth or teeth extracted for clinical reasons (e.g. decay or orthodontic [braces] treatment) will be investigated to gain insight into how enamel formation goes wrong.