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Defining a New Candidate Gene for Amelogenesis Imperfecta: From Molecular Genetics to Biochemistry

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Abstract

Amelogenesis imperfecta is a group of genetic conditions that affect the structure and clinical appearance of tooth enamel. The types (hypoplastic, hypocalcified, and hypomature) are correlated with defects in different stages of the process of enamel synthesis. Autosomal dominant, recessive, and X-linked types have been previously described. These disorders are considered clinically and genetically heterogeneous in etiology, involving a variety of genes, such as AMELX, ENAM, DLX3, FAM83H, MMP-20, KLK4, and WDR72. The mutations identified within these causal genes explain less than half of all cases of amelogenesis imperfecta. Most of the candidate and causal genes currently identified encode proteins involved in enamel synthesis. We think it is necessary to refocus the search for candidate genes using biochemical processes. This review provides theoretical evidence that the human SLC4A4 gene (sodium bicarbonate cotransporter) may be a new candidate gene.

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Acknowledgments

This research has been supported by grants PRI-ODO 07/03 and FIOUCh 09-1 from the Faculty of Dentistry of the University of Chile.

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Authors and Affiliations

  1. Department of Physical and Chemical Sciences, Faculty of Dentistry, University of Chile, Santiago, Chile

    Blanca Urzúa & Irene Morales-Bozo

  2. Department of Oral Pathology, Faculty of Dentistry, University of Chile, Santiago, Chile

    Ana Ortega-Pinto & Gonzalo Rojas-Alcayaga

  3. Department of Ecological Sciences, Faculty of Sciences, University of Chile, Santiago, Chile

    Víctor Cifuentes

  4. Facultad de Odontología, Universidad de Chile, Av. Sergio Livingstone Pohlhammer 943, Comuna de Independencia, Santiago, Chile

    Blanca Urzúa

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  1. Blanca Urzúa
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Correspondence to Blanca Urzúa.

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Urzúa, B., Ortega-Pinto, A., Morales-Bozo, I. et al. Defining a New Candidate Gene for Amelogenesis Imperfecta: From Molecular Genetics to Biochemistry. Biochem Genet 49, 104–121 (2011). https://doi.org/10.1007/s10528-010-9392-6

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