Defining a new candidate gene for amelogenesis imperfecta: from molecular genetics to biochemistry.
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.
Department of Physical and Chemical Sciences, Faculty of Dentistry, University of Chile, Santiago, Chile. brurzua@gmail.com
Blanca
B
Urzúa
Ana
A
Ortega-Pinto
Irene
I
Morales-Bozo
Gonzalo
G
Rojas-Alcayaga
Víctor
V
Cifuentes
D000565:Ameloblasts / Q000378:metabolism; D000566:Amelogenesis / Q000235:genetics; D000567:Amelogenesis Imperfecta / Q000145:classification / Q000235:genetics* / Q000378:metabolism* / Q000503:physiopathology; D000818:Animals; D001639:Bicarbonates / Q000378:metabolism*; D003743:Dental Enamel / Q000378:metabolism* / Q000503:physiopathology; D056726:Genetic Association Studies; D018740:Genetic Heterogeneity; D006801:Humans; D006863:Hydrogen-Ion Concentration; D017136:Ion Transport / Q000235:genetics; D051379:Mice; D009154:Mutation / Q000235:genetics; D051381:Rats; D027982:Sodium-Bicarbonate Symporters / Q000235:genetics / Q000378:metabolism; D014070:Tooth / Q000378:metabolism / Q000503:physiopathology
D001639:Bicarbonates; C498898:SLC4A4 protein, human; D027982:Sodium-Bicarbonate Symporters