About this Research Topic
The goal is to gather articles (Review, Mini-review, Original Research, Methods, Hypothesis & Theory, etc. - For more information, please see http://www.frontiersin.org/about/AuthorGuidelines) describing molecular features of human genetic chaperonopathies in a single publication, easily accessible to scientists and clinicians, constituting a representative sample of the field of molecular chaperone pathology with the contribution of those who actually studied the cases. Possible benefits are: a) disseminate knowledge on chaperone structure-function in pathology; b) facilitate student learning of chaperone physiology and pathophysiology at the molecular level; c) provide a unified tool for educators to teach about this important group of pathological conditions; d) furnish practitioners in the laboratory and in the clinics with a basis to identify, diagnose, and treat these conditions; and e) generate a coherent body of information that would demonstrate the importance of chaperonopathies in terms of severity, prevalence, and need to carry out research on them for the benefit of those making decisions in funding agencies.
An effort is made to welcome contributors from all major geographical areas. The emphasis of articles should be a critical presentation and discussion of what is currently known at the molecular level. Also, the authors are asked to: a) explain what can be inferred about the physiological role and mechanism of action of a normal chaperone from what is observed in a patient in which the chaperone malfunctions or does not function; and b) indicate potential developments for molecular diagnostics of chaperonopathies and for treating them, using/targeting chaperones.
Chaperonopathies can be classified as many other diseases into genetic and acquired: the former are typically caused by a mutation in the protein-coding region of a chaperone gene, whereas in the latter a structural change of the gene is not apparent (although the gene might be dysregulated). In both instances, the chaperone molecule is an active factor in the mechanism of disease; it is an etiologic-pathogenic factor.
Some of the most common genetic chaperonopathies affect the nervous and muscular systems, causing neuropathies and myopathies. There is a large variety of acquired chaperonopathies among which the most common manifest themselves as chronic inflammatory and autoimmune conditions, and cancers.
The focus of the Research Topic is the group of diseases of the nervous and muscular systems caused by genetic defects of chaperones, i.e., genetic chaperonopathies affecting preferentially the nervous and muscular systems.
Important Note: All contributions to this Research Topic must be within the scope of the section and journal to which they are submitted, as defined in their mission statements. Frontiers reserves the right to guide an out-of-scope manuscript to a more suitable section or journal at any stage of peer review.