Loss of DMP1 causes rickets and osteomalacia and identifies a role for osteocytes in mineral metabolism View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2006-11

AUTHORS

Jian Q Feng, Leanne M Ward, Shiguang Liu, Yongbo Lu, Yixia Xie, Baozhi Yuan, Xijie Yu, Frank Rauch, Siobhan I Davis, Shubin Zhang, Hector Rios, Marc K Drezner, L Darryl Quarles, Lynda F Bonewald, Kenneth E White

ABSTRACT

The osteocyte, a terminally differentiated cell comprising 90%-95% of all bone cells, may have multiple functions, including acting as a mechanosensor in bone (re)modeling. Dentin matrix protein 1 (encoded by DMP1) is highly expressed in osteocytes and, when deleted in mice, results in a hypomineralized bone phenotype. We investigated the potential for this gene not only to direct skeletal mineralization but also to regulate phosphate (P(i)) homeostasis. Both Dmp1-null mice and individuals with a newly identified disorder, autosomal recessive hypophosphatemic rickets, manifest rickets and osteomalacia with isolated renal phosphate-wasting associated with elevated fibroblast growth factor 23 (FGF23) levels and normocalciuria. Mutational analyses showed that autosomal recessive hypophosphatemic rickets family carried a mutation affecting the DMP1 start codon, and a second family carried a 7-bp deletion disrupting the highly conserved DMP1 C terminus. Mechanistic studies using Dmp1-null mice demonstrated that absence of DMP1 results in defective osteocyte maturation and increased FGF23 expression, leading to pathological changes in bone mineralization. Our findings suggest a bone-renal axis that is central to guiding proper mineral metabolism. More... »

PAGES

1310-1315

References to SciGraph publications

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/ng1905

DOI

http://dx.doi.org/10.1038/ng1905

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1035137496

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/17033621


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