Genetic condition causes dental defects in a wild chimpanzee


Many people have pits and grooves on their teeth. These defects, called enamel hypoplasia, are universal in human populations and in many groups almost all individuals will have at least one defect. Caused during formation when enamel fails to form correctly, the vast majority of instances are caused by disturbances in the first few years of life, such as illness, malnutrition, and disease. However, in a small number of cases, these defects have a genetic origin.

Enamel defects that are directly caused by genetic factors are termed amelogenesis imperfecta. Enamel imperfections can range dramatically in appearance, due mostly to the fact that a variety of different genetic mutations can be involved. Teeth may display pitting but there may also be whole sections of enamel that are missing. Additionally, teeth may be discoloured and enamel may be abnormal in density and thickness. These different characteristics can often be associated with different forms, and taken as a whole are relatively common in humans, affecting around one in every thousand people. Therefore, it is surprising that up to now no cases have been described in other primates.

Figure 1

Female chimpanzee showing enamel defects and a congenital missing tooth

In a recent study my colleagues and I describe the first case of amelogenesis imperfecta in a non-human primate. An adult female chimpanzee shows dental characteristics that support a diagnosis of a particular type of genetic condition found in humans. Given how closely related we are to chimpanzees this is perhaps not surprising, and the same mutation may well be responsible. However, in humans the range of defects identified, and corresponding genes involved, is growing rapidly and the complexity of how these defects form is still largely unknown. Therefore, it will be interesting to see further examples in other primate species to see if similar patterns are common.


Article: Amelogenesis imperfecta in the dentition of a wild chimpanzee

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Ian Towle

Ian Towle

I have recently completed a PhD at Liverpool John Moores University. My research focuses on diet and behavior in human evolution through studying teeth.

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