What is it about?
WNT1 osteoporosis is a rare form of autosomal dominant osteoporosis. We analyzed spinal MRI images from 17 Finnish subjects with a WNT1-mutation. We show that the mutated WNT1 leads to prevalent vertebral compression fractures in early adulthood, and as a result, in increased kyphotic stature and loss of adult height. Images also revealed, that the mutated WNT1 causes changes in also cartilaginous tissues of the spine.
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Why is it important?
Our findings demonstrate that rare inherited forms of osteoporosis, such as WNT1 osteoporosis, are often early-onset and can cause severe and physically delimitating changes in the spine. As the WNT pathway is now a target for novel osteoporosis drugs, it is important to consider possible off-target and extra-skeletal affects treatment may have, such as in cartilaginous tissues.
Perspectives
The opportunity to study a unique and large cohort of individuals with the same exact WNT1 mutation brings important information about the natural course, phenotypic variability and age of onset of skeletal pathology in rare forms of monogenic osteoporosis.
Riikka Mäkitie
Klassillis-filologinen yhdistys ry
Read the Original
This page is a summary of: MRI analysis of the spine in 17 adults with WNT1 osteoporosis, Bone Abstracts, April 2016, Bioscientifica,
DOI: 10.1530/boneabs.5.p315.
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