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Abnormalities in mitochondria and autophagic pathway have been proposed as pathogenic causes of collagen VI myopathies, but the link between collagen VI defects and these metabolic circuits remains unknown. To unravel the expression profiling perturbation in muscles with collagen VI myopathies, we performed a deep RNA profiling in both Col6a1\u2212\/\u2212 mice and patients with collagen VI pathology. The interactome map identified common pathways suggesting a previously undetected connection between circadian genes and collagen VI pathology. Intriguingly, Bmal1\u2212\/\u2212 (also known as Arntl) mice, a well-characterized model displaying arrhythmic circadian rhythms, showed profound deregulation of the collagen VI pathway and of autophagy-related genes. The involvement of circadian rhythms in collagen VI myopathies is new and links autophagy and mitochondrial abnormalities. It also opens new avenues for therapies of hereditary myopathies to modulate the molecular clock or potential gene\u2013environment interactions that might modify muscle damage pathogenesis.<\/jats:p>","DOI":"10.1242\/jcs.175927","type":"journal-article","created":{"date-parts":[[2016,3,5]],"date-time":"2016-03-05T03:15:38Z","timestamp":1457147738000},"page":"1671-1684","source":"Crossref","is-referenced-by-count":22,"title":["Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathy"],"prefix":"10.1242","volume":"129","author":[{"given":"Chiara","family":"Scotton","sequence":"first","affiliation":[{"name":"University of Ferrara 1 Medical Genetics Unit, Department of Medical Sciences , , Ferrara 44121 , Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matteo","family":"Bovolenta","sequence":"additional","affiliation":[{"name":"University of Ferrara 1 Medical Genetics Unit, Department of Medical Sciences 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