{"id":383729,"date":"2026-03-13T20:51:10","date_gmt":"2026-03-13T20:51:10","guid":{"rendered":"https:\/\/www.europesays.com\/ie\/383729\/"},"modified":"2026-03-13T20:51:10","modified_gmt":"2026-03-13T20:51:10","slug":"gene-mutation-that-aids-high-altitude-survival-could-repair-myelin-sheath-damage","status":"publish","type":"post","link":"https:\/\/www.europesays.com\/ie\/383729\/","title":{"rendered":"Gene mutation that aids high-altitude survival could repair myelin sheath damage"},"content":{"rendered":"<p>A genetic mutation that helps\u00a0animals\u00a0like yaks and Tibetan antelopes\u00a0survive at high altitudes may hold the key to repairing nerve damage in conditions such as cerebral paralysis and multiple sclerosis (MS).\u00a0The finding,\u00a0publishing\u00a0March\u00a013\u00a0in the Cell Press journal\u00a0Neuron, reveals a naturally existing pathway that\u00a0promotes\u00a0regeneration\u00a0after nerve damage\u00a0and could\u00a0open new doors\u00a0for\u00a0treating\u00a0diseases like\u00a0MS by\u00a0leveraging\u00a0molecules that are already present in\u00a0the human body.\u00a0<\/p>\n<p>&#8220;Evolution is a great gift from nature, providing a rich diversity of genes that help organisms adapt to different environments,&#8221; says corresponding author Liang Zhang of\u00a0Songjiang Hospital Affiliated to Shanghai Jiao\u00a0Tong University School of Medicine. &#8220;There is still so much to learn from naturally occurring genetic adaptations.&#8221;\u00a0<\/p>\n<p>The myelin\u00a0sheath\u00a0is a\u00a0protective layer\u00a0that\u00a0surrounds\u00a0nerve fibers in the brain and spinal cord, allowing nerve signals to\u00a0transmit\u00a0efficiently. Insufficient oxygen during brain development can damage this layer, leading to conditions like\u00a0cerebral paralysis in newborns.\u00a0<\/p>\n<p>In adults, injuries to the\u00a0myelin\u00a0sheath\u00a0are tied to\u00a0MS, an <a href=\"https:\/\/www.news-medical.net\/health\/What-is-Autoimmune-Disease.aspx\" class=\"linked-term\" rel=\"nofollow noopener\" target=\"_blank\">autoimmune disease<\/a> in which the immune system mistakenly attacks and destroys the\u00a0myelin\u00a0sheath.\u00a0Reduced blood flow to the brain, often associated with\u00a0aging, can also\u00a0damage\u00a0myelin, contributing to\u00a0conditions\u00a0such as cerebral small vessel disease and vascular dementia.\u00a0<\/p>\n<p>In\u00a0previous\u00a0studies, researchers have found that\u00a0animals\u00a0living on the Tibetan Plateau-which has an average elevation of\u00a014,700 feet-carry\u00a0a <a href=\"https:\/\/www.news-medical.net\/health\/How-do-Genetic-Mutations-Cause-Disease.aspx\" class=\"linked-term\" rel=\"nofollow noopener\" target=\"_blank\">mutation<\/a> on a gene\u00a0called\u00a0Retsat. Scientists suspected that this mutation helps animals like yaks\u00a0and Tibetan antelopes\u00a0maintain\u00a0healthy brain function despite chronically low oxygen levels.\u00a0<\/p>\n<p>Zhang and his team set off to investigate if this mutation could prevent\u00a0myelin\u00a0sheath damage. They exposed newborn mice to low-oxygen conditions\u00a0equivalent\u00a0to\u00a0elevations above\u00a013,000 feet\u00a0for about a week.\u00a0Mice carrying the\u00a0Retsat\u00a0mutation performed significantly better in learning, memory,\u00a0and social behavior tests than those with the standard version of the gene. Brain analyses\u00a0also\u00a0revealed that the\u00a0high-altitude gene\u00a0mice had higher levels of\u00a0myelin\u00a0surrounding their nerve fibers.\u00a0<\/p>\n<p>The\u00a0researchers\u00a0then examined\u00a0whether\u00a0the\u00a0Retsat\u00a0mutation could repair\u00a0myelin\u00a0sheath damage similar to that seen in MS. They found that in mice carrying the mutation, the\u00a0myelin\u00a0sheath regenerated much faster and more completely after injury. The injury sites also\u00a0had more mature oligodendrocytes, a type of cell responsible for producing\u00a0myelin.\u00a0<\/p>\n<p>Further\u00a0investigation\u00a0showed that mice with the mutation produced higher levels of ATDR, a metabolite derived from vitamin A, in their brains. The\u00a0Retsat\u00a0mutation appeared to increase the enzymatic activity that converts vitamin A into its metabolites, which in turn promotes\u00a0the production and maturation of\u00a0myelin-producing\u00a0oligodendrocytes.\u00a0When the team\u00a0gave\u00a0ATDR to mice with\u00a0an MS-like disease, their\u00a0disease severity\u00a0decreased, and they showed\u00a0improved motor function.\u00a0<\/p>\n<p>Current treatments for MS\u00a0mainly focus\u00a0on suppressing immune activity,\u00a0notes\u00a0Zhang. &#8220;ATDR is something everyone already has in their body. Our findings suggest that there may be an alternative approach that uses naturally occurring molecules to treat diseases related to\u00a0myelin\u00a0damage,&#8221; he says.\u00a0<\/p>\n<p>This work was supported by\u00a0the National Science and Technology Major Project, the\u00a0National\u00a0Natural Science Foundation of China,\u00a0the China Postdoctoral Science Foundation,\u00a0Shanghai Post-doctoral Excellence Program, the\u00a0Natural Science\u00a0Foundation of Shanghai,\u00a0the 2024 Tibet Autonomous Region Science\u00a0and Technology Plan Key R&amp;D\u00a0and Transformation Project,\u00a0the Open Research Fund of Navy Medical\u00a0University Basic Medical College, Yunnan Revitalization Talent\u00a0Support Program Science &amp; Technology Champion Project\u00a0and the\u00a0Yunnan Revitalization Talent Support Program.\u00a0<\/p>\n<p>Source:<\/p>\n<p>Journal reference:<\/p>\n<p>Li, D., et al. (2026). A gain-of-function Retsat variant from high-altitude adaptation promotes myelination via a neuronal dihydroretinoic acid-RXR-\u03b3 pathway.\u00a0Neuron. DOI: 10.1016\/j.neuron.2026.01.013.\u00a0<a href=\"https:\/\/www.cell.com\/neuron\/fulltext\/S0896-6273(26)00013-9\" rel=\"noopener nofollow\" target=\"_blank\">https:\/\/www.cell.com\/neuron\/fulltext\/S0896-6273(26)00013-9<\/a><\/p>\n","protected":false},"excerpt":{"rendered":"A genetic mutation that helps\u00a0animals\u00a0like yaks and Tibetan antelopes\u00a0survive at high altitudes may hold the key to repairing&hellip;\n","protected":false},"author":2,"featured_media":62271,"comment_status":"","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"footnotes":"","_share_on_mastodon":"0"},"categories":[78],"tags":[159,5505,18,8101,3288,5506,5052,135,690,19,17,96,3455,5053,19339,6366,23275,1281,7184,26543,172,11694,82,95958],"class_list":["post-383729","post","type-post","status-publish","format-standard","has-post-thumbnail","category-health","tag-brain","tag-cell","tag-eire","tag-evolution","tag-gene","tag-genes","tag-genetic","tag-health","tag-hospital","tag-ie","tag-ireland","tag-medicine","tag-multiple-sclerosis","tag-mutation","tag-myelin","tag-nerve","tag-neuron","tag-neuroscience","tag-oxygen","tag-paralysis","tag-research","tag-sclerosis","tag-technology","tag-vitamin-a"],"share_on_mastodon":{"url":"https:\/\/pubeurope.com\/@ie\/116223848541480463","error":""},"_links":{"self":[{"href":"https:\/\/www.europesays.com\/ie\/wp-json\/wp\/v2\/posts\/383729","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.europesays.com\/ie\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.europesays.com\/ie\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/ie\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/ie\/wp-json\/wp\/v2\/comments?post=383729"}],"version-history":[{"count":0,"href":"https:\/\/www.europesays.com\/ie\/wp-json\/wp\/v2\/posts\/383729\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/ie\/wp-json\/wp\/v2\/media\/62271"}],"wp:attachment":[{"href":"https:\/\/www.europesays.com\/ie\/wp-json\/wp\/v2\/media?parent=383729"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.europesays.com\/ie\/wp-json\/wp\/v2\/categories?post=383729"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.europesays.com\/ie\/wp-json\/wp\/v2\/tags?post=383729"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}