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Results for “FIBROUS DYSPLASIA OF BONE”

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At least 217 records · Page 12Linked to original sources
PubMed1994

An activating Gs alpha mutation is present in fibrous dysplasia of bone in the McCune-Albright syndrome.

McCune-Albright syndrome (MAS) is a sporadic disease characterized by polyostotic fibrous dysplasia, café-au-lait spots, and multiple endocrinopathies. The etiology of fibrous dysplasia is unknown. Activating mutations of codon 201 in the gene encoding the alpha-subunit of Gs, the G-protein that stimulates adenylyl cyclase, have been found in all affected MAS tissues that have been studied. Initial attempts to amplify DNA from decalcified paraffin-embedded bone specimens from MAS patients were unsuccessful. Therefore, we analyzed DNA from frozen surgical bone specimens from five MAS patients using polymerase chain reaction and allele-specific oligonucleotide hybridization. Most of the cells in four specimens of dysplastic bone contained a heterozygous mutation encoding substitution of Arg201 of Gs alpha with His, but the mutation was barely detectable in peripheral blood specimens from the patients. Only a small amount of mutant allele was detected in a specimen of normal cortical bone from the fifth patient, although this patient had a high proportion of mutation in other, affected tissues. The mosaic distribution of mutant alleles is consistent with an embryological somatic cell mutation of the Gs alpha gene in MAS. The presence of an activating mutation of Gs alpha in osteoblastic progenitor cells may cause them to exhibit increased proliferation and abnormal differentiation, thereby producing the lesions of fibrous dysplasia.

Adenylyl Cyclases↗
PubMed1992

Paget's disease of bone and fibrous dysplasia.

This review discusses recent studies of the etiology and epidemiology of Paget's disease of bone, as well as studies of its complications and associations. Medical and surgical treatments are reviewed; agents used in the medical treatment of Paget's disease include pamidronate and other bisphosphonates, gallium nitrate, and plicamycin, among others. The article concludes with a review of various investigations of fibrous dysplasia.

Fibrous Dysplasia of Bone↗