ESPEYB20 3. Bone, Growth Plate and Mineral Metabolism Advances in Clinical Practice (8 abstracts)
3.5. High bone mass disorders: New insights from connecting the clinic and the bench
Bergen DJM , Maurizi A , Formosa MM , McDonald GLK , El-Gazzar A , Hassan N , Brandi ML , Riancho JA , Rivadeneira F , Ntzani E , Duncan EL , Gregson CL , Kiel DP , Zillikens MC , Sangiorgi L , Högler W , Duran I , Mäkitie O , Van Hul W & Hendrickx G
J Bone Miner Res. 2023 Feb;38(2):229–247. doi: 10.1002/jbmr.4715. PMID: 36161343. https://asbmr.onlinelibrary.wiley.com/doi/10.1002/jbmr.4715
In Brief: This comprehensive review classifies the known high bone mass (HBM) disorders based on Gene Ontology (GO) nomenclature. The authors emphasize the importance of functional genomics in the discovery of new HBM genes and discuss strategies to improve understanding of the underlying pathogenic mechanisms and inform the development of therapeutic approaches.
Commentary: HBM disorders are typically defined by a high areal bone marrow density (BMD) Z-score >+2.5 in at least 2 skeletal sites. Increased bone mass may be due to increased osteoblastic bone formation, decreased osteoclastic bone resorption or imbalance in bone formation and resorption. It is important to classify the different HBM disorders based on the genes involved and the implicated signalling pathways/biological processes.
The authors classified the known HBM disorders into 10 distinct sub-groups based on the biological function of the mutated genes, using Gene Ontology nomenclature. Some sub-groups are further classified based upon genes/disorders involving a particular signalling pathway. The authors believe that ‘reverse genetics’ is a future direction, using different functional genomics methodologies to study novel genes implicated in the pathogenesis of HBM disorders.
This classification of HBM disorders will be very useful for both researchers and clinicians. There are relatively few functional genomics studies on HBM disorders. The authors emphasize the importance of reverse genetics approaches, using appropriate model systems to identify novel HBM genes. Further, amalgamation of both clinical genetics and experimental approaches will be crucial to identify pathological mechanisms and guide the design of therapeutic strategies to existing and novel HBM conditions.
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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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