Myostatin and follistatin as monitoring and prognostic biomarkers in dysferlinopathy


Por: Moore U., Fernández-Simón E., Schiava M., Cox D., Gordish-Dressman H., James M.K., Mayhew A., Wilson I., Guglieri M., Rufibach L., Blamire A., Carlier P.G., Mori-Yoshimura M., Day J.W., Jones K.J., Bharucha-Goebel D.X., Salort-Campana E., Pestronk A., Walter M.C., Paradas C., Stojkovic T., Bravver E., Pegoraro E., Mendell J.R., Bushby K., Diaz-Manera J., Straub V.

Publicada: 1 ene 2023 Ahead of Print: 1 ene 2023
Resumen:
Myostatin is a myokine which acts upon skeletal muscle to inhibit growth and regeneration. Myostatin is endogenously antagonised by follistatin. This study assessed serum myostatin and follistatin concentrations as monitoring or prognostic biomarkers in dysferlinopathy, an autosomal recessively inherited muscular dystrophy. Myostatin was quantified twice with a three-year interval in 76 patients with dysferlinopathy and 38 controls. Follistatin was quantified in 62 of these patients at the same timepoints, and in 31 controls. Correlations with motor function, muscle fat fraction and contractile cross-sectional area were performed. A regression model was used to account for confounding variables. Baseline myostatin, but not follistatin, correlated with baseline function and MRI measures. However, in individual patients, three-year change in myostatin did not correlate with functional or MRI changes. Linear modelling demonstrated that function, serum creatine kinase and C-reactive protein, but not age, were independently related to myostatin concentration. Baseline myostatin concentration predicted loss of ambulation but not rate of change of functional or MRI measures, even when relative inhibition with follistatin was considered. With adjustment for extra-muscular causes of variation, myostatin could form a surrogate measure of functional ability or muscle mass, however myostatin inhibition does not form a promising treatment target in dysferlinopathy. Copyright © 2023. Published by Elsevier B.V.

Filiaciones:
Moore U.:
 John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom

Fernández-Simón E.:
 John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom

Schiava M.:
 John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom

Cox D.:
 John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom

Gordish-Dressman H.:
 Center for Translational Science, Division of Biostatistics and Study Methodology, Children's National Health System, Washington, DC, USA

James M.K.:
 John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom

Mayhew A.:
 John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom

Wilson I.:
 Magnetic Resonance Centre, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, United Kingdom

Guglieri M.:
 John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom

Rufibach L.:
 Jain Foundation, Seattle, WA, United States

Blamire A.:
 Magnetic Resonance Centre, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, United Kingdom

Carlier P.G.:
 University Paris-Saclay, CEA, Spain

Mori-Yoshimura M.:
 Department of Neurology, National Center Hospital, National Center of Neurology and PsychiatryTokyo, Japan

Day J.W.:
 Department of Neurology and Neurological Sciences, Stanford University School of Medicine, Stanford, CA, United States

Jones K.J.:
 Children's Hospital at Westmead and The University of Sydney, NSW, Sydney, Australia

Bharucha-Goebel D.X.:
 Department of Neurology, Children's National Health System, Washington, DC, USA

Salort-Campana E.:
 Service des maladies neuromusculaire et de la SLA, Hôpital de La Timone, Marseille, France

Pestronk A.:
 Department of Neurology, Washington University School of Medicine, St. Louis, MO, United States

Walter M.C.:
 Friedrich-Baur-Institute, Department of Neurology, LudwigMaximilians-University of Munich, Munich, Germany

Paradas C.:
 Neuromuscular Unit, Department of Neurology, Hospital U. Virgen del Rocío/Instituto de Biomedicina de Sevilla, Sevilla, Spain

Stojkovic T.:
 Centre de reference des maladies neuromusculaires, Institut de Myologie, AP-HP, Sorbonne Université, Hôpital Pitié-Salpêtrière, Paris, France

Bravver E.:
 Neuroscience Institute, Carolinas Neuromuscular/ALS-MDA Center, Carolinas HealthCare System, Charlotte, NC, USA

Pegoraro E.:
 Department of Neuroscience, University of Padova, Padua, Italy

Mendell J.R.:
 Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, OH, United States

Bushby K.:
 John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom

Diaz-Manera J.:
 The John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK

Straub V.:
 John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom
ISSN: 09608966
Editorial
PERGAMON-ELSEVIER SCIENCE LTD, THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND, Estados Unidos America
Tipo de documento: Article
Volumen: 33 Número: 2
Páginas: 199-207
WOS Id: 000925536300001
ID de PubMed: 36689846
imagen hybrid, All Open Access; Hybrid Gold

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