Human Preosteoblastic Cell Culture from a Patient with Severe Tumoral Calcinosis-Hyperphosphatemia Due to a New GALNT3 Gene Mutation: Study of In Vitro Mineralization
| Autor: | Federica Cioppi, Emanuela Colli, Caterina Fossi, Francesca Giusti, Roberto Zonefrati, Carmelo Mavilia, Alessia Gozzini, Cristiana Casentini, Rodolfo Capanna, Gianna Galli, Giovanni Beltrami, Laura Masi, Alessandro Franchi, S. Ottanelli, Francesco Franceschelli, Simone Ciuffi, Maria Luisa Brandi, Gemma Marcucci |
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| Rok vydání: | 2015 |
| Předmět: |
Tumoral calcinosis
medicine.medical_specialty Extra Skeletal calcification Endocrinology Diabetes and Metabolism Cellular differentiation Molecular Sequence Data Mutant Cell Culture Techniques Phosphatonin Gene mutation Biology Polymerase Chain Reaction Congenital Endocrinology Cortical Calcinosis Internal medicine medicine Humans Orthopedics and Sports Medicine Child Base Sequence Cell Differentiation Female Flow Cytometry Hyperostosis Cortical Congenital Hyperphosphatemia N-Acetylgalactosaminyltransferases Osteoblasts Pedigree Stem Cells Mutation Splice site mutation Hyperostosis medicine.disease Diabetes and Metabolism Fibroblast Growth Factor-23 Cell culture Cancer research Stem cell |
| Zdroj: | Calcified Tissue International. 96:438-452 |
| ISSN: | 1432-0827 0171-967X |
| DOI: | 10.1007/s00223-015-9974-8 |
| Popis: | Human disorders of phosphate (Pi) handling and skeletal mineralization represent a group of rare bone diseases. One of these disease is tumoral calcinosis (TC). In this study, we present the case of a patient with TC with a new GALNT3 gene mutation. We also performed functional studies using an in vitro cellular model. Genomic DNA was extracted from peripheral blood collected from a teenage Caucasian girl affected by TC, and from her parents. A higher capability to form mineralization nodules in vitro was found in human preosteoblastic cells of mutant when compared to wild-type controls. We found a novel homozygous inactivating splice site mutation in intron I (c.516-2a>g). A higher capability to form mineralization nodules in vitro was found in the mutant cells in human preosteoblastic cells when compared to wild-type controls. Understanding the functional significance and molecular physiology of this novel mutation will help to define the role of FGF23 in the control of Pi homeostasis in normal and in pathological conditions. |
| Databáze: | OpenAIRE |
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