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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Bone mineral density in sclerosteosis; affected individuals and gene carriers
Journal of Clinical Endocrinology and Metabolism, Volume 90, No. 12, Year 2005
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Description
Background: Sclerosteosis is an autosomal recessive sclerosing bone disorder due to deficiency of sclerostin, a protein secreted by the osteocytes that inhibits bone formation. In the present study we assessed the effect of variable expression of the genetic defect on bone mineral density (BMD) in patients and carriers of the determinant gene. Methods: We studied 25 individuals (seven patients and 18 phenotypically normal heterozygotes). BMD was measured by dual x-ray absorptiometry at the lumbar spine, total hip, and distal forearm, and lateral radiographs of the skull were obtained. Results: Individuals with sclerosteosis had markedly increased BMD at all skeletal sites (Z-score ranges: lumbar spine, +7.73 to +14.43; total hip, +7.84 to +11.51; forearm, +4.44 to +9.53). In heterozygotes, BMD was above the mean value of healthy age-matched individuals at all skeletal sites and had a wide range of normal and clearly increased values. Skull radiographs showed the typical hyperostotic changes in affected individuals and mild or no changes in heterozygotes. Conclusions: Heterozygous carriers of sclerosteosis have BMD values consistently higher than the mean of healthy subjects without any of the bone complications encountered in homozygotes. This finding suggests that the production and/or activity of sclerostin can be titrated in vivo, leading to variable increases in bone mass without any unwanted skeletal effects, a hypothesis of obvious significance for the development of new therapeutics for osteoporosis. Copyright © 2005 by The Endocrine Society.
Authors & Co-Authors
Gardner, Jessica C.
South Africa, Cape Town
Faculty of Health Sciences
Van Bezooijen, Rutger L.
Netherlands, Leiden
Leids Universitair Medisch Centrum
Mervis, Benjamin
South Africa, Cape Town
Faculty of Health Sciences
Hamdy, Neveen A.T.
Netherlands, Leiden
Leids Universitair Medisch Centrum
Löwik, Clemens W.G.M.
Netherlands, Leiden
Leids Universitair Medisch Centrum
Hamersma, Herman
South Africa, Johannesburg
Flora Clinic
Beighton, Peter H.
South Africa, Cape Town
Faculty of Health Sciences
Papapoulos, Socrates E.
Netherlands, Leiden
Leids Universitair Medisch Centrum
Statistics
Citations: 8
Authors: 8
Affiliations: 3
Identifiers
Doi:
10.1210/jc.2005-1235
ISSN:
0021972X
e-ISSN:
0021972X
Research Areas
Genetics And Genomics
Noncommunicable Diseases