Alberto J. L. Macario, and Everly Conway de Macario<\/p>\n\n\n\n
Abstract<\/strong><\/p>\n\n\n\n Skeletal muscles are essential for virtually all human activities but they would not function without the nerves that serve them. Life safety in our moving world indoors and outdoors depends on an optimal neuromuscular system. Molecular chaperones are indispensable for development and maintenance of muscles and nerves throughout the life span of an individual. It follows that chaperone failure may affect seriously the neuromuscular system. Indeed, chaperone deficiency does occur and can cause disease, a chaperonopathy. Many chaperonopathies affect primarily muscles and nerves, causing neuro-myopathies. These pathologic conditions are discussed here and illustrative examples are presented, focusing on the information provided in an open access eBook recently published and available to all. The notion that chaperones can be pathogenic must be borne in mind by physicians and health professionals in practice and research; it will enable them to improve differential diagnosis and patient management. Chaperonopathies may be involved in the mechanism of many diseases, not just those affecting preferentially muscles and nerves, but they go undiagnosed because currently they are not in the medical curricula. This article is an attempt to correct, at least partially, this deficiency.<\/p>\n\n\n\n References<\/strong><\/p>\n\n\n\n \u00c1lvarez-Satta M, Castro-S\u00e1nchez S and Valverde D (2017)\nBardet-Biedl Syndrome as a Chaperonopathy: Dissecting the Major Role of\nChaperonin-Like BBS Proteins (BBS6-BBS10-BBS12). Front. Mol. 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Mol. Biosci.\n4:41. doi: 10.3389\/fmolb.2017.00041<\/p>\n\n\n\n Lupo V, Aguado C, Knecht E and Espin\u00f3s C (2016) Chaperonopathies:\nSpotlight on Hereditary Motor Neuropathies. Front.\nMol. Biosci.\n3:81. doi: 10.3389\/fmolb.2016.00081<\/p>\n\n\n\n Macario AJL, Conway de Macario\nE. Sick\nChaperones, Cellular Stress, and Disease.<\/a>\nN\nEngl J Med. 2005 Oct 6;353(14):1489-501. PMID: 16207851<\/p>\n\n\n\n Macario AJL, Conway de\nMacario E. Chaperonopathies\nand Chaperonotherapy.<\/a> FEBS Lett. 2007 Jul 31;581(19):3681-8.\nEpub 2007 Apr 24. PMID:17475257<\/p>\n\n\n\n Macario AJL, Conway de Macario E, Cappello F. The Chaperonopathies. Diseases\nwith Defective Molecular Chaperones. 2013. Springer Dordrecht Heidelberg New\nYork London. http:\/\/<\/a>www.springer.com\/biomed\/book\/978-94-007-4666-4<\/a><\/p>\n\n\n\n Ruggieri A, Saredi S, Zanotti S, Pasanisi MB, Maggi L and\nMora M (2016) DNAJB6 Myopathies: Focused Review on an Emerging and Expanding\nGroup of Myopathies. Front. Mol.\nBiosci. 3:63. doi: 10.3389\/fmolb.2016.00063<\/p>\n\n\n\n Sorge M and Brancaccio M (2016) Melusin Promotes a\nProtective Signal Transduction Cascade in Stressed Hearts. Front. Mol. Biosci. 3:53. doi:\n10.3389\/fmolb.2016.00053<\/p>\n\n\n\n Tang WK and Xia D (2016) Mutations in the Human AAA+<\/sup>\nChaperone p97 and Related Diseases. Front.\nMol. Biosci. 3:79. doi: 10.3389\/fmolb.2016.00079<\/p>\n","protected":false},"excerpt":{"rendered":" Alberto J. L. Macario, and Everly Conway de Macario Abstract Skeletal muscles are essential for virtually all human activities but they would not function without<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[6],"tags":[33,30,31,27,29,34,40,35,32,36,26,38,39,37,28],"class_list":["post-246","post","type-post","status-publish","format-standard","hentry","category-commentary","tag-amyotrophic-lateral-sclerosis","tag-archaea","tag-bardet-biedl-syndrome","tag-chaperonopathies","tag-chaperonotherapy","tag-distal-hereditary-motor-neuropathies","tag-leukodystrophies","tag-limb-girdle-muscular-dystrophy","tag-melusin","tag-multisystem-proteinopathies","tag-myopathies","tag-neuropathies","tag-p97","tag-pelizaeus-merzbacher-disease","tag-spinal-muscular-atrophy"],"_links":{"self":[{"href":"https:\/\/www.iemest.eu\/life-safety-and-security\/wp-json\/wp\/v2\/posts\/246","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.iemest.eu\/life-safety-and-security\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.iemest.eu\/life-safety-and-security\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.iemest.eu\/life-safety-and-security\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/www.iemest.eu\/life-safety-and-security\/wp-json\/wp\/v2\/comments?post=246"}],"version-history":[{"count":1,"href":"https:\/\/www.iemest.eu\/life-safety-and-security\/wp-json\/wp\/v2\/posts\/246\/revisions"}],"predecessor-version":[{"id":247,"href":"https:\/\/www.iemest.eu\/life-safety-and-security\/wp-json\/wp\/v2\/posts\/246\/revisions\/247"}],"wp:attachment":[{"href":"https:\/\/www.iemest.eu\/life-safety-and-security\/wp-json\/wp\/v2\/media?parent=246"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.iemest.eu\/life-safety-and-security\/wp-json\/wp\/v2\/categories?post=246"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.iemest.eu\/life-safety-and-security\/wp-json\/wp\/v2\/tags?post=246"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}