title: Establishment of Singleton-Merten syndrome pulp cells: evidence of mineralization dysregulation.
abstract: Singleton-Merten syndrome (SMS) is a rare disease with a phenotype of dental dysplasia. Currently, the underlying mechanism of this disease is unknown. In order to investigate the functional mechanism of the SMS tooth phenotypes, we isolated dental pulp tissue and established SMS primary pulp cells. These cells exhibited normal morphology and could be maintained in culture. Their ability to express alkaline phosphatase and mineralize was confirmed by in vitro staining. A comparative osteogenesis polymerase chain reaction array analysis was performed revealing 22 genes up-regulated and 8 genes down-regulated greater than 2-fold in SMS versus unaffected pulp cells. Down-regulated genes included ALP, IGF2, TGFBR2 and COL1A1. Collagen type I was reduced in SMS cells as shown by Western blot analysis. Furthermore, matrix metallopeptidase 13 was found to be dramatically increased in SMS pulp cells. Our findings suggest that dentin mineralization is dysregulated in SMS and may contribute to the root phenotype found in this disease.
authors.affiliation: Institute of Oral Health Research, School of Dentistry University of Alabama , Birmingham, AL , USA and.
authors.forename: Changming
authors.initials: C
authors.lastname: Lu
authors.forename: Olga A
authors.initials: OA
authors.lastname: Mamaeva
authors.forename: Chun
authors.initials: C
authors.lastname: Cui
authors.forename: Hope
authors.initials: H
authors.lastname: Amm
authors.forename: Frank
authors.initials: F
authors.lastname: Rutsch
authors.forename: Mary
authors.initials: M
authors.lastname: MacDougall
mesh_terms: D001018:Aortic Diseases / Q000235:genetics*; D002454:Cell Differentiation / Q000502:physiology; D002478:Cells, Cultured; D003744:Dental Enamel Hypoplasia / Q000235:genetics*; D003782:Dental Pulp / Q000166:cytology*; D016326:Extracellular Matrix Proteins / Q000235:genetics; D006801:Humans; D008663:Metacarpus / Q000002:abnormalities* / Q000166:cytology; D009135:Muscular Diseases / Q000235:genetics*; D018126:Odontodysplasia / Q000235:genetics*; D010012:Osteogenesis / Q000235:genetics*; D010024:Osteoporosis / Q000235:genetics*; D014074:Tooth Calcification / Q000235:genetics*; D061205:Vascular Calcification / Q000235:genetics*
chemical_list: D016326:Extracellular Matrix Proteins
keywords: Cell culture; MMP13; MMPs; type I collagen