{"id":35701,"date":"2025-04-03T14:56:00","date_gmt":"2025-04-03T14:56:00","guid":{"rendered":"https:\/\/www.editage.com\/insights\/?p=35701"},"modified":"2025-04-28T06:15:42","modified_gmt":"2025-04-28T06:15:42","slug":"pink1-gene-mutation-how-it-causes-parkinsons-disease","status":"publish","type":"post","link":"https:\/\/www.editage.com\/insights\/pink1-gene-mutation-how-it-causes-parkinsons-disease","title":{"rendered":"PINK1 gene mutation: How it causes Parkinson\u2019s Disease"},"content":{"rendered":"<p><span style=\"font-weight: 400;\"><span data-contrast=\"auto\">A team of researchers from the University of Melbourne, Australia, has determined how the <\/span><a href=\"https:\/\/www.medicalnewstoday.com\/articles\/scientists-unveil-how-key-protein-malfunctions-leads-parkinsons-for-first-time#Big-leap-closer-to-new-Parkinson-s-disease-therapies\" data-cke-saved-href=\"https:\/\/www.medicalnewstoday.com\/articles\/scientists-unveil-how-key-protein-malfunctions-leads-parkinsons-for-first-time#Big-leap-closer-to-new-Parkinson-s-disease-therapies\"><span data-contrast=\"none\">mutation of a key protein expressed by <\/span><span data-contrast=\"none\"><i>PINK1<\/i><\/span><span data-contrast=\"none\"> leads to Parkinson\u2019s disease<\/span><\/a><span data-contrast=\"auto\">. The <\/span><a href=\"https:\/\/www.science.org\/doi\/10.1126\/science.adu6445\" data-cke-saved-href=\"https:\/\/www.science.org\/doi\/10.1126\/science.adu6445\"><span data-contrast=\"none\">study<\/span><\/a><span data-contrast=\"auto\"> delineates what human <\/span><span data-contrast=\"auto\"><i>PINK1 <\/i><\/span><span data-contrast=\"auto\">looks like and how its malfunctioning leads to neuronal cell death, serving as a significant step in understanding the cause of this neurodegenerative disease.<\/span>\u00a0<\/span><\/p>\n<p><span style=\"font-weight: 400;\"><span data-contrast=\"auto\"><i><b>PINK1<\/b><\/i><\/span><span data-contrast=\"auto\"><b> and its role in protecting mitochondria<\/b><\/span>\u00a0<\/span><\/p>\n<p><span style=\"font-weight: 400;\"><span data-contrast=\"auto\">The protein expressed by <\/span><span data-contrast=\"auto\"><i>PINK1<\/i><\/span><span data-contrast=\"auto\"> (Official Full Name: <\/span><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/gene\/65018\" data-cke-saved-href=\"https:\/\/www.ncbi.nlm.nih.gov\/gene\/65018\"><span data-contrast=\"none\">PTEN induced kinase 1<\/span><\/a><span data-contrast=\"auto\">) helps protect mitochondria by detecting the damage in the \u201cpowerhouse of the cell\u201d by attaching itself to the mitochondrial surface. Once attached and activated, <\/span><span data-contrast=\"auto\"><i>PINK1<\/i><\/span><span data-contrast=\"auto\"> marks the protein <\/span><span data-contrast=\"none\">ubiquitin<\/span><span data-contrast=\"auto\"> and initiates a \u201cclean-up\u201d to prevent the damaged mitochondria from turning toxic. If not cleaned, this mitochondrial toxicity can be particularly harmful to brain cells as they require energy in abundance. The toxins from mitochondria result in the death of neuronal cells in the brain, which causes Parkinson\u2019s disease.<\/span>\u00a0<\/span><\/p>\n<p><span style=\"font-weight: 400;\"><span data-contrast=\"auto\"><b>Deeper understanding of human <\/b><\/span><span data-contrast=\"auto\"><i><b>PINK1<\/b><\/i><\/span>\u00a0<\/span><\/p>\n<p><span style=\"font-weight: 400;\"><span data-contrast=\"auto\">Because they can be produced in large amounts, insect <\/span><span data-contrast=\"auto\"><i>PINK1 <\/i><\/span><span data-contrast=\"auto\">has been used thus far to study how this key protein protects mitochondria. However, Dr. Sylvie Callegari and her research team used cryo-electron microscopy and substantial amounts of cells to visualize how human <\/span><span data-contrast=\"auto\"><i>PINK1<\/i><\/span><span data-contrast=\"auto\"> attaches to the mitochondrial surface.<\/span>\u00a0<\/span><\/p>\n<p><span style=\"font-weight: 400;\"><span data-contrast=\"auto\">This provides clarity on four major functions of <\/span><span data-contrast=\"auto\"><i>PINK1<\/i><\/span><span data-contrast=\"auto\">:<\/span>\u00a0<\/span><\/p>\n<ul>\n<li aria-setsize=\"-1\" data-aria-level=\"1\" data-aria-posinset=\"1\" data-font=\"Symbol\" data-leveltext=\"\uf0b7\" data-list-defn-props=\"{&quot;335552541&quot;:1,&quot;335559685&quot;:720,&quot;335559991&quot;:360,&quot;469769226&quot;:&quot;Symbol&quot;,&quot;469769242&quot;:[8226],&quot;469777803&quot;:&quot;left&quot;,&quot;469777804&quot;:&quot;\uf0b7&quot;,&quot;469777815&quot;:&quot;hybridMultilevel&quot;}\" data-listid=\"1\"><span style=\"font-weight: 400;\"><span data-contrast=\"auto\">How <\/span><span data-contrast=\"auto\"><i>PINK1 <\/i><\/span><span data-contrast=\"auto\">senses the mitochondrial damage.<\/span>\u00a0<\/span><\/li>\n<\/ul>\n<ul>\n<li aria-setsize=\"-1\" data-aria-level=\"1\" data-aria-posinset=\"2\" data-font=\"Symbol\" data-leveltext=\"\uf0b7\" data-list-defn-props=\"{&quot;335552541&quot;:1,&quot;335559685&quot;:720,&quot;335559991&quot;:360,&quot;469769226&quot;:&quot;Symbol&quot;,&quot;469769242&quot;:[8226],&quot;469777803&quot;:&quot;left&quot;,&quot;469777804&quot;:&quot;\uf0b7&quot;,&quot;469777815&quot;:&quot;hybridMultilevel&quot;}\" data-listid=\"1\"><span style=\"font-weight: 400;\"><span data-contrast=\"auto\">How it gets attached to the surface of mitochondria.<\/span>\u00a0<\/span><\/li>\n<\/ul>\n<ul>\n<li aria-setsize=\"-1\" data-aria-level=\"1\" data-aria-posinset=\"3\" data-font=\"Symbol\" data-leveltext=\"\uf0b7\" data-list-defn-props=\"{&quot;335552541&quot;:1,&quot;335559685&quot;:720,&quot;335559991&quot;:360,&quot;469769226&quot;:&quot;Symbol&quot;,&quot;469769242&quot;:[8226],&quot;469777803&quot;:&quot;left&quot;,&quot;469777804&quot;:&quot;\uf0b7&quot;,&quot;469777815&quot;:&quot;hybridMultilevel&quot;}\" data-listid=\"1\"><span style=\"font-weight: 400;\"><span data-contrast=\"auto\">How it tags (or marks) the protein <\/span><span data-contrast=\"auto\">ubiquitin.<\/span>\u00a0<\/span><\/li>\n<\/ul>\n<ul>\n<li aria-setsize=\"-1\" data-aria-level=\"1\" data-aria-posinset=\"4\" data-font=\"Symbol\" data-leveltext=\"\uf0b7\" data-list-defn-props=\"{&quot;335552541&quot;:1,&quot;335559685&quot;:720,&quot;335559991&quot;:360,&quot;469769226&quot;:&quot;Symbol&quot;,&quot;469769242&quot;:[8226],&quot;469777803&quot;:&quot;left&quot;,&quot;469777804&quot;:&quot;\uf0b7&quot;,&quot;469777815&quot;:&quot;hybridMultilevel&quot;}\" data-listid=\"1\"><span style=\"font-weight: 400;\"><span data-contrast=\"auto\">How the tagged ubiquitin \u201crecycles\u201d the damaged mitochondria.<\/span>\u00a0<\/span><\/li>\n<\/ul>\n<p><span style=\"font-weight: 400;\"><span data-contrast=\"auto\">If <\/span><span data-contrast=\"auto\"><i>PINK1 <\/i><\/span><span data-contrast=\"auto\">malfunctions, this entire process leading to the elimination of damaged mitochondria is affected, which in turn leads to Parkinson\u2019s disease.<\/span>\u00a0<\/span><\/p>\n<p><span style=\"font-weight: 400;\"><span data-contrast=\"auto\"><b>Potential for future investigation on improved treatment methods<\/b><\/span>\u00a0<\/span><\/p>\n<p><span style=\"font-weight: 400;\"><span data-contrast=\"auto\">Dr. Callegari and her team believe that the visualization of <\/span><span data-contrast=\"auto\"><i>PINK1 <\/i><\/span><span data-contrast=\"auto\">can help test drugs that can be used to make this protein more active. Although some drugs are in pipeline, testing them was a challenge because of the lack of visualization of their interaction with <\/span><span data-contrast=\"auto\"><i>PINK1<\/i><\/span><span data-contrast=\"auto\">.\u00a0<\/span>\u00a0<\/span><\/p>\n<p><span style=\"font-weight: 400;\"><span data-contrast=\"auto\">Further research on designing new drugs for increasing the activity of <\/span><span data-contrast=\"auto\"><i>PINK1 <\/i><\/span><span data-contrast=\"auto\">is also being planned. This promising study can even contribute to the development of enhanced interventions and treatment methods that can help tackle the early onset of Parkinson\u2019s disease.<\/span>\u00a0<\/span><\/p>\n","protected":false},"excerpt":{"rendered":"<p>A team of researchers from the University of Melbourne, Australia, has determined how the mutation of a key protein expressed by PINK1 leads to Parkinson\u2019s disease. The study delineates what human PINK1 looks like and how its malfunctioning leads to neuronal cell death, serving as a significant step in understanding the cause of this neurodegenerative [&hellip;]<\/p>\n","protected":false},"author":70612,"featured_media":35703,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"inline_featured_image":false,"footnotes":""},"categories":[2385,2435],"tags":[],"new_categories":[],"new_tags":[],"series":[],"class_list":["post-35701","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-science-communication","category-trending-research"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v25.0 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>PINK1 gene mutation: How it causes Parkinson\u2019s Disease | Editage Insights<\/title>\n<meta name=\"description\" content=\"PINK1 mutations impair clearance of damaged mitochondria, which in turn results in neuronal cell death and leads to early onset Parkinson\u2019s disease. 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