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Bone health in Duchenne muscular dystrophy: clinical and biochemical correlates

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Abstract

Purpose

An increased fracture risk is commonly reported in Duchenne muscular dystrophy (DMD). Our aim was to investigate bone mineral density (BMD) and bone turnover, including sclerostin, and their association with markers of cardiac and respiratory performance in a cohort of DMD subjects.

Methods

In this single center, cross sectional observational study, lumbar spine (LS) BMD Z-scores, C-terminal telopeptide of procollagen type I (CTX) and osteocalcin (BGP), as bone resorption and formation markers, respectively, and sclerostin were assessed. Left ventricular ejection fraction (LVEF) and forced vital capacity (FVC) were evaluated. Clinical prevalent fractures were also recorded.

Results

Thirty-one patients [median age = 14 (12–21.5) years] were studied. Ambulant subjects had higher LS BMD Z-scores compared with non-ambulant ones and subjects with prevalent clinical fractures [n = 9 (29%)] showed lower LS BMD Z-scores compared with subjects without fractures. LS BMD Z-scores were positively correlated with FVC (r = 0.50; p = 0.01), but not with glucocorticoid use, and FVC was positively associated with BGP (r = 0.55; p = 0.02). In non-ambulant subjects, LS BMD Z-scores were associated with BMI (r = 0.54; p = 0.02) and sclerostin was associated with age (r = 0.44; p = 0.05). Age, BMI, FVC and sclerostin were independently associated with LS BMD Z-score in a stepwise multiple regression analysis. Older age, lower BMI, FVC and sclerostin were associated with lower LS BMD Z-scores.

Conclusion

In a cohort of DMD patients, our data confirm low LS BMD Z-scores, mainly in non-ambulant subjects and irrespective of the glucocorticoid use, and suggest that FVC and sclerostin are independently associated with LS BMD Z-scores.

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Availability of data and material

The datasets generated during and/or analysed during the current study are available from the corresponding author on reasonable request.

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Acknowledgements

This work was partially supported by a SIOMMMS (Società Italiana dell’Osteoporosi, del Metabolismo Minerale e delle Malattie dello Scheletro) research grant (to A.C.).

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  1. Antonino Catalano and Gian Luca Vita have equally contributed.

Authors and Affiliations

  1. Department of Clinical and Experimental Medicine, A.O.U. Policlinico “G. Martino”, University of Messina, Via C. Valeria, 98125, Messina, Italy

    Antonino Catalano, Federica Bellone, Maria Sframeli, Maria Grazia Distefano, Matteo La Rosa, Giuseppe Vita, Nunziata Morabito & Sonia Messina

  2. Nemo Sud Clinical Centre for Neuromuscular Disorders, Aurora Onlus Foundation, University Hospital “G. Martino”, Messina, Italy

    Gian Luca Vita, Maria Sframeli, Giuseppe Vita & Sonia Messina

  3. Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy

    Agostino Gaudio

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Contributions

Conceptualization: AC, GLV, NM; methodology: AC, GLV, SM; investigation: AC, GLV, FB, MF, MGD, MLR, AG, SM; formal analysis: AC, GLV; writing—original draft preparation: AC, GLV, SM, writing—review and editing: AC, GLV, GV, SM, NM; supervision: GV, SM, NM. All authors have read and agreed to the published version of the manuscript.

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Correspondence to Antonino Catalano.

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Antonino Catalano, Gian Luca Vita, Federica Bellone, Maria Sframeli, Maria Grazia Distefano, Matteo La Rosa, Agostino Gaudio, Giuseppe Vita, Nunziata Morabito and Sonia Messina have no conflicts of interest to declare that are relevant to the content of this article.

Ethical approval

All procedures performed in this study involving human participants were in accordance with the ethical standards of Scientific Ethic Committee of the AOU Policlinico “G. Martino”, Messina, Italy (Prot. 20-12) and with the 1964 Helsinki declaration and its later amendments.

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An informed consent was obtained from all participants included in the study or from their parents as appropriate.

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Nunziata Morabito and Sonia Messina are both senior authors.

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Catalano, A., Vita, G.L., Bellone, F. et al. Bone health in Duchenne muscular dystrophy: clinical and biochemical correlates. J Endocrinol Invest 45, 517–525 (2022). https://doi.org/10.1007/s40618-021-01676-4

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