Research Topic

Pathologic conditions of the human nervous and muscular systems associated with mutant chaperones: molecular and mechanistic aspects

  • Submission closed.

About this Research Topic

Chaperones have a variety of functions pertaining to protein homeostasis and to other cellular phenomena. What happens when a chaperone malfunctions or is blocked? The consequence is a chaperonopathy: a pathologic condition occurs because a chaperone malfunctions or does not function. Past surveys have ...

Chaperones have a variety of functions pertaining to protein homeostasis and to other cellular phenomena. What happens when a chaperone malfunctions or is blocked? The consequence is a chaperonopathy: a pathologic condition occurs because a chaperone malfunctions or does not function. Past surveys have gathered many such diseases, in which a chaperone is affected by a pathogenic mutation or a post-translational modification; or it occurs in excess and beyond its normal abode and elicits inflammatory and autoimmune responses; or it is involved in a pathway that helps a cancer cell to grow, proliferate, and metastasize, rather than acting against the tumor. These and other situations have been found in humans showing a variety of clinical symptoms and signs but not much is known yet about molecular mechanisms. Likewise, the molecular details and dynamics of normal (physiological) chaperoning functions in humans, in vivo, are incompletely understood. One way of elucidating the mechanisms of chaperoning and other functions of chaperones in vivo, in humans, is to examine the experiments of nature, namely diseases in which a chaperone is not working well, or not working at all, or performing an abnormal task (e.g., gain of function). From these experiments of nature it should be possible to gain insights into the specific roles of chaperones, and into the molecular mechanisms underlying these roles.

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.

Recent Articles

Loading..

About Frontiers Research Topics

With their unique mixes of varied contributions from Original Research to Review Articles, Research Topics unify the most influential researchers, the latest key findings and historical advances in a hot research area! Find out more on how to host your own Frontiers Research Topic or contribute to one as an author.

Topic Editors

Loading..

Submission Deadlines

Submission closed.

Participating Journals

Loading..

Topic Editors

Loading..

Submission Deadlines

Submission closed.

Participating Journals

Loading..
Loading..

total views article views article downloads topic views

}
 
Top countries
Top referring sites
Loading..

Comments

Loading..

Add a comment

Add comment
Back to top