{"id":197,"date":"2013-11-27T12:34:40","date_gmt":"2013-11-27T12:34:40","guid":{"rendered":"https:\/\/blogs.ncl.ac.uk\/katarzynapirog\/?p=197"},"modified":"2016-01-21T12:37:51","modified_gmt":"2016-01-21T12:37:51","slug":"mild-myopathy-in-mouse-models-of-skeletal-diseases-research-paper","status":"publish","type":"post","link":"https:\/\/blogs.ncl.ac.uk\/piroglab\/2013\/11\/27\/mild-myopathy-in-mouse-models-of-skeletal-diseases-research-paper\/","title":{"rendered":"Mild myopathy in mouse models of skeletal diseases &#8211; research paper"},"content":{"rendered":"<p style=\"text-align: justify\"><a href=\"https:\/\/blogs.ncl.ac.uk\/katarzynapirog\/files\/2016\/01\/paper-myo.jpg\" rel=\"attachment wp-att-198\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-full wp-image-198\" src=\"https:\/\/blogs.ncl.ac.uk\/katarzynapirog\/files\/2016\/01\/paper-myo.jpg\" alt=\"paper myo\" width=\"1385\" height=\"382\" srcset=\"https:\/\/blogs.ncl.ac.uk\/piroglab\/files\/2016\/01\/paper-myo.jpg 1385w, https:\/\/blogs.ncl.ac.uk\/piroglab\/files\/2016\/01\/paper-myo-300x83.jpg 300w, https:\/\/blogs.ncl.ac.uk\/piroglab\/files\/2016\/01\/paper-myo-768x212.jpg 768w, https:\/\/blogs.ncl.ac.uk\/piroglab\/files\/2016\/01\/paper-myo-1024x282.jpg 1024w\" sizes=\"auto, (max-width: 1385px) 100vw, 1385px\" \/><\/a><\/p>\n<p style=\"text-align: justify\"><strong>Abstract<\/strong><\/p>\n<p style=\"text-align: justify\">Pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED) are skeletal disorders resulting from mutations in COMP, matrilin-3 or collagen IX and are characterised by short-limbed dwarfism and premature osteoarthritis. Interestingly, recent reports suggest patients can also manifest with muscle weakness. Here we present a detailed analysis of two mouse models of the PSACH\/MED disease spectrum; \u0394D469 T3-COMP (PSACH) and V194D matrilin-3 (MED). In grip test experiments T3-COMP mice were weaker than wild-type littermates, whereas V194D mice behaved as controls, confirming that short-limbed dwarfism alone does not contribute to PSACH\/MED-related muscle weakness. Muscles from T3-COMP mice showed an increase in centronuclear fibers at the myotendinous junction. T3-COMP tendons became more lax in cyclic testing and showed thicker collagen fibers when compared with wild-type tissue; matrilin-3 mutant tissues were indistinguishable from controls. This comprehensive study of the myopathy associated with PSACH\/MED mutations enables a better understanding of the disease progression, confirms that it is genotype specific and that the limb weakness originates from muscle and tendon pathology rather than short-limbed dwarfism itself. Since some patients are primarily diagnosed with neuromuscular symptoms, this study will facilitate better awareness of the differential diagnoses that might be associated with the PSACH\/MED spectrum and subsequent care of PSACH\/MED patients.<\/p>\n<p style=\"text-align: justify\">The full paper can be seen <span style=\"color: #ff6600\"><strong><a style=\"color: #ff6600\" href=\"http:\/\/journals.plos.org\/plosone\/article?id=10.1371\/journal.pone.0082412\">here<\/a><\/strong><\/span><\/p>\n<p style=\"text-align: justify\">Or downloaded here: <span style=\"color: #ff6600\"><strong><a style=\"color: #ff6600\" href=\"https:\/\/blogs.ncl.ac.uk\/katarzynapirog\/files\/2016\/01\/myopathy-paper.pdf\" rel=\"\">myopathy paper<\/a><\/strong><\/span><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Abstract Pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED) are skeletal disorders resulting from mutations in COMP, matrilin-3 or collagen IX and are characterised by short-limbed dwarfism and premature osteoarthritis. Interestingly, recent reports suggest patients can also manifest with muscle weakness. Here we present a detailed analysis of two mouse models of the PSACH\/MED disease spectrum; &hellip; <a href=\"https:\/\/blogs.ncl.ac.uk\/piroglab\/2013\/11\/27\/mild-myopathy-in-mouse-models-of-skeletal-diseases-research-paper\/\" class=\"more-link\">Continue reading <span class=\"screen-reader-text\">Mild myopathy in mouse models of skeletal diseases &#8211; research paper<\/span> <span class=\"meta-nav\">&rarr;<\/span><\/a><\/p>\n","protected":false},"author":4483,"featured_media":0,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[8],"tags":[],"class_list":["post-197","post","type-post","status-publish","format-standard","hentry","category-publications"],"_links":{"self":[{"href":"https:\/\/blogs.ncl.ac.uk\/piroglab\/wp-json\/wp\/v2\/posts\/197","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/blogs.ncl.ac.uk\/piroglab\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/blogs.ncl.ac.uk\/piroglab\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/blogs.ncl.ac.uk\/piroglab\/wp-json\/wp\/v2\/users\/4483"}],"replies":[{"embeddable":true,"href":"https:\/\/blogs.ncl.ac.uk\/piroglab\/wp-json\/wp\/v2\/comments?post=197"}],"version-history":[{"count":1,"href":"https:\/\/blogs.ncl.ac.uk\/piroglab\/wp-json\/wp\/v2\/posts\/197\/revisions"}],"predecessor-version":[{"id":200,"href":"https:\/\/blogs.ncl.ac.uk\/piroglab\/wp-json\/wp\/v2\/posts\/197\/revisions\/200"}],"wp:attachment":[{"href":"https:\/\/blogs.ncl.ac.uk\/piroglab\/wp-json\/wp\/v2\/media?parent=197"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/blogs.ncl.ac.uk\/piroglab\/wp-json\/wp\/v2\/categories?post=197"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/blogs.ncl.ac.uk\/piroglab\/wp-json\/wp\/v2\/tags?post=197"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}