Disease relevance of Fibrous Dysplasia of Bone

• Mutations of specific G(s)alpha residues (Arg(201) or Gln(227)) that are critical for the GTPase reaction lead to constitutive activation of G(s)-coupled signaling pathways, and such somatic mutations are found in endocrine tumors, fibrous dysplasia of bone, and the McCune-Albright syndrome [1].
• X-linked hypophosphatemic rickets (XLH), tumor-induced osteomalacia (TIO), and fibrous dysplasia of bone (FD) are disorders involving phosphate homeostasis that share phenotypes with ADHR, indicating that FGF23 may be a common denominator for the pathophysiology of these syndromes [2].

High impact information on Fibrous Dysplasia of Bone

• FGF-23 in fibrous dysplasia of bone and its relationship to renal phosphate wasting [3].
• Renal phosphate wasting occurs in approximately 50% of patients with McCune-Albright syndrome (MAS) and fibrous dysplasia of bone (FD), which result from postzygotic mutations of the GNAS1 gene [3].
• Long-term effects of intravenous pamidronate in fibrous dysplasia of bone [4].
• Patient 2 had postsurgical hypoparathyroidism and fibrous dysplasia of bone [5].
• Prevalence of the disorder is unknown, partly because it may be confused with Alzheimer disease and fibrous dysplasia of bone [6].

Chemical compound and disease context of Fibrous Dysplasia of Bone

• Activating missense mutations at the Arg 201 codon of the Gs alpha gene ultimately leading to increased levels of cyclic adenosine monophosphate have been implicated in McCune-Albright syndrome and sporadic fibrous dysplasia of bone [7].
• Effect of tiludronate in fibrous dysplasia of bone. A case-report [8].

Gene context of Fibrous Dysplasia of Bone

• Fibrous dysplasia of bone (FD) is caused by somatic mutations of the GNAS1 gene, which lead to constitutive activation of adenylyl cyclase and overproduction of cAMP in osteogenic cells [9].
• In fibrous dysplasia of bone, BMP was abundant in the fibrocellular tissue that had osteogenic activity [10].
• Polymerase chain reaction-based technique for the selective enrichment and analysis of mosaic arg201 mutations in G alpha s from patients with fibrous dysplasia of bone [11].

References