title: Isolation and characterization of dental pulp stem cells from a patient with Papillon-Lefèvre syndrome.
abstract: BACKGROUND
  Papillon-Lefèvre syndrome (PLS) is a rare autosomal recessive disorder characterized by immune dysregulation because of a mutation in cathepsin c gene, resulting in hyperkeratosis of the palms, soles, elbows, and knees combined with premature loss of the primary and permanent dentitions. Periodontal tissue abnormalities in PLS patients were reported previously. However, less is known about dental pulp tissue derived cells of PLS patients. This study aimed to show stem cell potential of PLS dental pulp stem cells (DPSCs) and provide new evidence regarding the pathophysiology of the disease.
  
  
  METHODS
  DPSCs were characterized by using flow cytometry and immunocytochemistry. They were also induced to differentiate into adipogenic, osteogenic, chondrogenic, odontogenic, and myogenic cells.
  
  
  RESULTS
  The results revealed that PLS DPSCs are stained positive for mesenchymal stem cells surface markers CD29, CD73, CD90, CD105, and CD166. PLS DPSCs were able to differentiate into adipogenic, osteogenic, chondrogenic, and odontogenic cell types properly. PLS DPSCs expressed embryonic stem cell markers Oct4, Sox2, cMYc, and Klf4 and showed similar proliferation rate compared with DPSCs isolated from healthy young controls. Interestingly, it was found that unlike the healthy DPSCs, PLS DPSCs are not able to form myotubes with correct morphology.
  
  
  CONCLUSIONS
  These data are being reported for the first time; therefore, they might provide new insights to the pathology of the disease. Our results suggest that the PLS DPSCs might be an autologous stem cell source for PLS patients for cellular therapy of alveolar bone defects and other dental tissue abnormalities observed in PLS.
authors.affiliation: Department of Genetics and Bioengineering, Faculty of Engineering and Architecture, Yeditepe University, Istanbul, Turkey.
authors.forename: Pakize Neslihan
authors.initials: PN
authors.lastname: Taşlı
authors.forename: Sıdıka
authors.initials: S
authors.lastname: Tapşın
authors.forename: Sezin
authors.initials: S
authors.lastname: Demirel
authors.forename: Mehmet Emir
authors.initials: ME
authors.lastname: Yalvaç
authors.forename: Serap
authors.initials: S
authors.lastname: Akyuz
authors.forename: Aysen
authors.initials: A
authors.lastname: Yarat
authors.forename: Fikrettin
authors.initials: F
authors.lastname: Sahin
mesh_terms: D015720:5'-Nucleotidase / Q000032:analysis; D050156:Adipogenesis / Q000502:physiology; D015703:Antigens, CD / Q000032:analysis; D002448:Cell Adhesion / Q000502:physiology; D015816:Cell Adhesion Molecules, Neuronal / Q000032:analysis; D002454:Cell Differentiation / Q000502:physiology; D049109:Cell Proliferation; D002469:Cell Separation / Q000379:methods; D020219:Chondrogenesis / Q000502:physiology; D003782:Dental Pulp / Q000166:cytology*; D000071063:Endoglin; D005326:Fetal Proteins / Q000032:analysis; D005434:Flow Cytometry / Q000379:methods; D058851:GPI-Linked Proteins / Q000032:analysis; D006801:Humans; D007150:Immunohistochemistry; D019012:Integrin beta1 / Q000032:analysis; D000090062:Kruppel-Like Factor 4; D051741:Kruppel-Like Transcription Factors / Q000032:analysis; D059630:Mesenchymal Stem Cells / Q000145:classification / Q000166:cytology*; D024510:Muscle Development / Q000502:physiology; D018485:Muscle Fibers, Skeletal / Q000473:pathology; D050814:Octamer Transcription Factor-3 / Q000032:analysis; D009805:Odontogenesis / Q000502:physiology; D010012:Osteogenesis / Q000502:physiology; D010214:Papillon-Lefevre Disease / Q000473:pathology*; D016271:Proto-Oncogene Proteins c-myc / Q000032:analysis; D011956:Receptors, Cell Surface / Q000032:analysis; D055748:SOXB1 Transcription Factors / Q000032:analysis; D018800:Thy-1 Antigens / Q000032:analysis; D016335:Zinc Fingers; D020410:Activated-Leukocyte Cell Adhesion Molecule
chemical_list: D015720:5'-Nucleotidase; D015703:Antigens, CD; D015816:Cell Adhesion Molecules, Neuronal; D000071063:Endoglin; D005326:Fetal Proteins; D058851:GPI-Linked Proteins; D019012:Integrin beta1; D000090062:Kruppel-Like Factor 4; D051741:Kruppel-Like Transcription Factors; D050814:Octamer Transcription Factor-3; D016271:Proto-Oncogene Proteins c-myc; D011956:Receptors, Cell Surface; D055748:SOXB1 Transcription Factors; D018800:Thy-1 Antigens; C105613:ALCAM protein, human; D020410:Activated-Leukocyte Cell Adhesion Molecule; C064206:ENG protein, human; C000715467:KLF4 protein, human; C489427:MYC protein, human; C494173:POU5F1 protein, human; C527782:SOX2 protein, human; C548241:NT5E protein, human