MicroRNA signatures predict dysregulated vitamin D receptor and calcium pathways status in limb girdle muscle dystrophies (LGMD) 2A/2B.

M Aguennouz, C Lo Giudice, N Licata, C Rodolico, O Musumeci, M Fanin, A Migliorato, M Ragusa, V Macaione, R M Di Giorgio, C Angelini, A Toscano

Journal: Cell biochemistry and function 2017;34(6):414-22

PMID: 27558075

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Abstract

miRNA expression profile and predicted pathways involved in selected limb-girdle muscular dystrophy (LGMD)2A/2B patients were investigated. A total of 187 miRNAs were dysregulated in all patients, with six miRNAs showing opposite regulation in LGMD2A versus LGMD2B patients. Silico analysis evidence: (1) a cluster of the dysregulated miRNAs resulted primarily involved in inflammation and calcium metabolism, and (2) two genes predicted as controlled by calcium-assigned miRNAs (Vitamin D Receptor gene and Guanine Nucleotide Binding protein beta polypeptide 1gene) showed an evident upregulation in LGMD2B patients, in accordance with miRNA levels. Our data support alterations in calcium pathway status in LGMD 2A/B, suggesting myofibre calcium imbalance as a potential therapeutic target. Copyright © 2016 John Wiley & Sons, Ltd.

Address: Department of Clinical and Experimental Medicine, University of Messina, Italy.; Neurological Clinic, University of Padua, Italy.; Department of Biomedical and Biotechnological Sciences Biology, Genetics and Bioinformatics Unit, University of Catania, Italy.

DOI: 10.1002/cbf.3202

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MeSH Terms: Adolescent, Adult, Calcium, Child, Child, Preschool, Female, GTP-Binding Protein beta Subunits, Gene Expression Profiling, Gene Expression Regulation, Humans, Male, MicroRNAs, Middle Aged, Muscle, Skeletal, Muscular Dystrophies, Limb-Girdle, Receptors, Calcitriol, Signal Transduction