Defining a new candidate gene for amelogenesis imperfecta: from molecular genetics to biochemistry

Biochem Genet. 2011 Feb;49(1-2):104-21. doi: 10.1007/s10528-010-9392-6. Epub 2010 Dec 3.

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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Ameloblasts / metabolism
  • Amelogenesis / genetics
  • Amelogenesis Imperfecta / classification
  • Amelogenesis Imperfecta / genetics*
  • Amelogenesis Imperfecta / metabolism*
  • Amelogenesis Imperfecta / physiopathology
  • Animals
  • Bicarbonates / metabolism*
  • Dental Enamel / metabolism*
  • Dental Enamel / physiopathology
  • Genetic Association Studies
  • Genetic Heterogeneity
  • Humans
  • Hydrogen-Ion Concentration
  • Ion Transport / genetics
  • Mice
  • Mutation / genetics
  • Rats
  • Sodium-Bicarbonate Symporters* / genetics
  • Sodium-Bicarbonate Symporters* / metabolism
  • Tooth / metabolism
  • Tooth / physiopathology

Substances

  • Bicarbonates
  • SLC4A4 protein, human
  • Sodium-Bicarbonate Symporters