{"id":25204,"date":"2019-03-30T12:00:48","date_gmt":"2019-03-30T18:00:48","guid":{"rendered":"http:\/\/www.salud.carlosslim.org\/english2\/?p=25204"},"modified":"2019-04-01T11:41:04","modified_gmt":"2019-04-01T17:41:04","slug":"new-muscle-disease-found","status":"publish","type":"post","link":"http:\/\/www.salud.carlosslim.org\/english2\/new-muscle-disease-found\/","title":{"rendered":"New muscle disease found"},"content":{"rendered":"

\"\"Researchers from the Bellvitge Biomedical Research Institute (IDIBELL), led by Montse Oliv\u00e9, described in Nature Communications<\/em> a new muscle disease: Myoglobinopathy, caused by a mutation in the myoglobin gene<\/strong>. The discovery has been possible thanks to the collaboration with a team of geneticists from the Western University of Australia (UWA), led by Professor Nigel Laing, and researchers from the Karolinska Institute (Stockholm, Sweden).<\/p>\n

The main function of myoglobin, the protein responsible for the red color of muscles is the transport and intracellular storage of oxygen, acting as an oxygen reservoir when there are low levels (hypoxia) or a total lack thereof (anoxia)<\/strong>. This protein also participates in the uptake and elimination of free radicals and other reactive oxygen species, avoiding cell damage due to oxidative stress.<\/p>\n

“This is the first time that a disease caused by a mutation of the myoglobin gene has been identified<\/em>,” says Oliv\u00e9. “We have identified the same mutation in several members of six European families with no relationship to each other, all of whom had the same symptoms and very characteristic lesions, called sarcoplasmic bodies, in muscle biopsies<\/em><\/strong>,” he adds.<\/p>\n

Myoglobinopathy, the name that has been proposed for the new disease, manifests itself between the fourth and fifth decade of life<\/strong>. It causes a progressive loss of strength in the axial muscles and extremities, and, in more advanced stages, affects the respiratory musculature and the heart.<\/p>\n

ALBA synchrotron<\/h3>\n

The study has also involved, among others, researchers from the ALBA synchrotron and the Autonomous University of Barcelona. The infrared microscopy of the MIRAS light line of the synchrotron, which allows characterizing the chemical composition and structure of proteins, has allowed demonstrating the presence of oxidized lipids in the affected muscle cells<\/strong>. “We have observed that sarcoplasmic bodies correspond to oxidized lipids and misfolded proteins<\/em>,” says Nuria Benseny, researcher at the ALBA synchrotron.<\/p>\n

Finally, researchers from the Universities of Modena and Vienna have shown an alteration in the biochemical and thermodynamic properties of the mutated myoglobin, including an alteration in the oxygen-binding capacity that contributes to the formation of the lipid and protein aggregates that are found in the muscles of the patients<\/strong>.<\/p>\n

This new discovery has allowed establishing the diagnosis of patients after many years, and will allow focusing efforts when it comes to finding a cure for this disease.<\/p>\n

 <\/p>\n

Source: <\/strong>SINC<\/em><\/p>\n","protected":false},"excerpt":{"rendered":"

Researchers from the Bellvitge Biomedical Research Institute (IDIBELL), led by Montse Oliv\u00e9, described in Nature Communications a new muscle disease: Myoglobinopathy, caused by a mutation in the myoglobin gene. The discovery has been possible thanks to the collaboration with a team of geneticists from the Western University of Australia (UWA), led by Professor Nigel Laing, …<\/p>\n","protected":false},"author":7,"featured_media":25231,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"ngg_post_thumbnail":0,"footnotes":""},"categories":[3],"tags":[15],"class_list":["post-25204","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-actualidad-en-la-salud","tag-casalud","cat-3-id","has_thumb"],"_links":{"self":[{"href":"http:\/\/www.salud.carlosslim.org\/english2\/wp-json\/wp\/v2\/posts\/25204","targetHints":{"allow":["GET"]}}],"collection":[{"href":"http:\/\/www.salud.carlosslim.org\/english2\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"http:\/\/www.salud.carlosslim.org\/english2\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"http:\/\/www.salud.carlosslim.org\/english2\/wp-json\/wp\/v2\/users\/7"}],"replies":[{"embeddable":true,"href":"http:\/\/www.salud.carlosslim.org\/english2\/wp-json\/wp\/v2\/comments?post=25204"}],"version-history":[{"count":4,"href":"http:\/\/www.salud.carlosslim.org\/english2\/wp-json\/wp\/v2\/posts\/25204\/revisions"}],"predecessor-version":[{"id":25232,"href":"http:\/\/www.salud.carlosslim.org\/english2\/wp-json\/wp\/v2\/posts\/25204\/revisions\/25232"}],"wp:featuredmedia":[{"embeddable":true,"href":"http:\/\/www.salud.carlosslim.org\/english2\/wp-json\/wp\/v2\/media\/25231"}],"wp:attachment":[{"href":"http:\/\/www.salud.carlosslim.org\/english2\/wp-json\/wp\/v2\/media?parent=25204"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"http:\/\/www.salud.carlosslim.org\/english2\/wp-json\/wp\/v2\/categories?post=25204"},{"taxonomy":"post_tag","embeddable":true,"href":"http:\/\/www.salud.carlosslim.org\/english2\/wp-json\/wp\/v2\/tags?post=25204"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}