Charlotte L Phillips1,2, Youngjae Jeong3. 1. Department of Biochemistry, University of Missouri, 117 Schweitzer Hall, Columbia, MO, 65211, USA. phillipscl@missouri.edu. 2. Department of Child Health, University of Missouri, Columbia, MO, 65211, USA. phillipscl@missouri.edu. 3. Department of Biochemistry, University of Missouri, 117 Schweitzer Hall, Columbia, MO, 65211, USA.
Abstract
PURPOSE OF REVIEW: Osteogenesis imperfecta (OI) is a hereditary connective tissue disorder of skeletal fragility and more recently muscle weakness. This review highlights our current knowledge of the impact of compromised OI muscle function on muscle-bone interactions and skeletal strength in OI. RECENT FINDINGS: The ramifications of inherent muscle weakness in OI muscle-bone interactions are just beginning to be elucidated. Studies in patients and in OI mouse models implicate altered mechanosensing, energy metabolism, mitochondrial dysfunction, and paracrine/endocrine crosstalk in the pathogenesis of OI. Compromised muscle-bone unit impacts mechanosensing and the ability of OI muscle and bone to respond to physiotherapeutic and pharmacologic treatment strategies. Muscle and bone are both compromised in OI, making it essential to understand the mechanisms responsible for both impaired muscle and bone functions and their interdependence, as this will expand and drive new physiotherapeutic and pharmacological approaches to treat OI and other musculoskeletal disorders.
PURPOSE OF REVIEW: Osteogenesis imperfecta (OI) is a hereditary connective tissue disorder of skeletal fragility and more recently muscle weakness. This review highlights our current knowledge of the impact of compromised OI muscle function on muscle-bone interactions and skeletal strength in OI. RECENT FINDINGS: The ramifications of inherent muscle weakness in OI muscle-bone interactions are just beginning to be elucidated. Studies in patients and in OI mouse models implicate altered mechanosensing, energy metabolism, mitochondrial dysfunction, and paracrine/endocrine crosstalk in the pathogenesis of OI. Compromised muscle-bone unit impacts mechanosensing and the ability of OI muscle and bone to respond to physiotherapeutic and pharmacologic treatment strategies. Muscle and bone are both compromised in OI, making it essential to understand the mechanisms responsible for both impaired muscle and bone functions and their interdependence, as this will expand and drive new physiotherapeutic and pharmacological approaches to treat OI and other musculoskeletal disorders.
Authors: Louis-Nicolas Veilleux; Martin Lemay; Annie Pouliot-Laforte; Moira S Cheung; Francis H Glorieux; Frank Rauch Journal: J Clin Endocrinol Metab Date: 2013-11-18 Impact factor: 5.958
Authors: Joan C Marini; Antonella Forlino; Hans Peter Bächinger; Nick J Bishop; Peter H Byers; Anne De Paepe; Francois Fassier; Nadja Fratzl-Zelman; Kenneth M Kozloff; Deborah Krakow; Kathleen Montpetit; Oliver Semler Journal: Nat Rev Dis Primers Date: 2017-08-18 Impact factor: 52.329
Authors: Victoria L Gremminger; Emily N Harrelson; Tara K Crawford; Adrienne Ohler; Laura C Schulz; R Scott Rector; Charlotte L Phillips Journal: Mol Genet Metab Date: 2021-02-20 Impact factor: 4.797