Collagen VI-Related Myopathies—COL6-RMs

Dear Colleagues,

We are excited to announce a Special Issue of the Journal of International Molecular Sciences that focuses on collagen VI-related myopathies—COL6-RMs.

Collagen VI, encoded by COL6A1–COL6A6 genes, is a component of the extracellular matrix of almost all connective tissues. Mutations in the COL6A1, COL6A2, and COL6A3 genes result in either the absence or malformation of the microfibrils, causing a spectrum of muscle disorders: Bethlem myopathy (BM), Ullrich congenital muscular dystrophy (UCMD), myosclerosis myopathy (MM), and a phenotype of intermediate severity between BM and UCMD.

Key pathomolecular mechanisms involved in these myopathies are related to a defective autophagy with an inability to remove dysfunctional mitochondria that cause persistent opening of the permeability transition pore, a reduction in ATP synthesis, and reactive oxygen species generation.

Proof-of-concept treatments in animal models and in patients have successfully targeted both defective autophagy and mitochondrial dysfunction.  

This Special Issue aims to answer both unresolved questions and explore new territories. The principal potential topics to be covered include (1) how collagen VI matrix defects cause cellular defects, (2) why muscle fibers in COL6-RMs have an earlier peripheral demise, (3) pathological aspects of fascia, skin, subcutaneous tissue, adipose tissue, joints, tendons, ligaments (OPLL), neuromuscular junctions, peripheral nerves and the central nervous system due to collagen VI defects in animal models and in patients, (4) the three minor collagen VI chains  (α4, α5, α6) and their more restricted distribution, (5) new animal models, (6) the effect of different types of gene mutations, (7) peculiar clinical aspects, (8) natural history, (9) respiratory treatment, (10) orthopedic surgery of deformities, and (11) drug and gene therapy. A list of potential topics is provided in the Keywords section below.

Research articles, reviews, and short communications are invited. All papers will undergo peer review.

Prof. Dr. Luciano Merlini
Prof. Dr. Paolo Bonaldo
Prof. Dr. Shireen Lamandé
Guest Editors

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