{"id":91785,"date":"2018-11-06T09:10:07","date_gmt":"2018-11-06T14:10:07","guid":{"rendered":"https:\/\/www.ucf.edu\/news\/?p=91785"},"modified":"2019-06-07T11:39:28","modified_gmt":"2019-06-07T15:39:28","slug":"ucf-researcher-targeting-mutant-gene-may-prevent-huntingtons-symptoms","status":"publish","type":"post","link":"https:\/\/www.ucf.edu\/news\/ucf-researcher-targeting-mutant-gene-may-prevent-huntingtons-symptoms\/","title":{"rendered":"UCF Researcher: Targeting Mutant Gene May Prevent Huntington\u2019s Symptoms"},"content":{"rendered":"<p>At 27, Danny Miller expected himself to be his company\u2019s \u201cyoung gun\u201d diesel mechanic. But then he began noticing involuntary muscle movements in his face, hands and feet. He felt weak. His memory was fading.<\/p>\n<figure id=\"attachment_112494\" style=\"max-width: 276px;\" class=\"figure float-left\"><noscript><img decoding=\"async\" class=\"figure-img size-medium img-fluid w-100 wp-image-112494\" src=\"\/\/med.ucf.edu\/media\/2018\/10\/katie-danny-miller-e1540906583415-276x300.jpg\" alt=\"Danny and Katie Miller. Danny was recently diagnosed with Huntington's disease.\"><\/noscript><img decoding=\"async\" class=\"figure-img size-medium img-fluid w-100 wp-image-112494 lazyload\" src=\"data:image\/gif;base64,R0lGODlhAQABAIAAAAAAAP\/\/\/yH5BAEAAAAALAAAAAABAAEAAAIBRAA7\" alt=\"Danny and Katie Miller. Danny was recently diagnosed with Huntington's disease.\" data-src=\"\/\/med.ucf.edu\/media\/2018\/10\/katie-danny-miller-e1540906583415-276x300.jpg\"><figcaption class=\"figure-caption\">Danny Miller and his wife, Katie, at a Huntington&#8217;s Disease Society of America (HDSA) event. Danny was recently diagnosed with Huntington&#8217;s.<\/figcaption><\/figure>\n<p>Doctors gave him a heartbreaking diagnosis: Huntington\u2019s disease, an incurable neurodegenerative disease that causes severe mood changes, cognitive decline and early death.<\/p>\n<p>Scientists describe Huntington\u2019s as having Alzheimer\u2019s disease, schizophrenia and ALS (Lou Gehrig\u2019s disease) all at the same time. They know that a mutant gene causes the disease by stimulating production of an abnormal version of a protein called huntingtin. The protein\u2019s exact purpose in the body remains unclear, but it appears to play a critical role in the function of nerve cells, especially in the brain. So abnormal huntingtin proteins are most harmful to brain nerve cells.<\/p>\n<p>Now a UCF <a href=\"https:\/\/med.ucf.edu\">College of Medicine<\/a> researcher has synthesized pieces of DNA to stop production of mutant huntingtin while leaving normal huntingtin proteins intact. Dr. Amber Southwell\u2019s results, published this month in Science Translational Medicine, showed that after suppressing the mutant protein in mice, damage to their brain function not only ceased, but in some cases was completely reversed.<\/p>\n<p>\u201cFor the first time, we showed that by getting rid of this mutant huntingtin protein, psychiatric and mood changes could come back to normal, and this could be done with a potential therapeutic,\u201d Southwell says. \u201cSo we\u2019re pretty excited about it.\u201d<\/p>\n<p>\u201cPeople are always going to continue to have the mutation. But if we can stop them from ever getting sick, that\u2019s going to be good enough \u2013 that would be the end goal. We\u2019re a long way from that, but that\u2019s what we\u2019re working towards.\u201d<\/p>\n<p>About 30,000 Americans have Huntington\u2019s disease and typically live about 15 to 20 years after diagnosis. Carriers have a 50 percent chance of passing Huntington\u2019s on to their children. Miller says he wasn\u2019t surprised by his diagnosis \u2013 his father, sister, grandmother and at least three other relatives have Huntington\u2019s or have died from it.<\/p>\n<figure id=\"attachment_112491\" style=\"max-width: 199px;\" class=\"figure float-right\"><noscript><img decoding=\"async\" class=\"figure-img img-fluid w-100 wp-image-112491 size-medium\" src=\"\/\/med.ucf.edu\/media\/2018\/10\/Southwell-Amber005-199x300.jpg\" alt=\"Dr. Amber Southwell\"><\/noscript><img decoding=\"async\" class=\"figure-img img-fluid w-100 wp-image-112491 size-medium lazyload\" src=\"data:image\/gif;base64,R0lGODlhAQABAIAAAAAAAP\/\/\/yH5BAEAAAAALAAAAAABAAEAAAIBRAA7\" alt=\"Dr. Amber Southwell\" data-src=\"\/\/med.ucf.edu\/media\/2018\/10\/Southwell-Amber005-199x300.jpg\"><figcaption class=\"figure-caption\">Dr. Amber Southwell<\/figcaption><\/figure>\n<p>The disease causes severe physical and emotional damage. \u201cYou lose your body, your mind, yourself, your personality \u2013 everything changes,\u201d Southwell says. \u201cPeople are writhing \u2013 they can\u2019t sit still. They can\u2019t recognize their relatives and they\u2019re having these psychotic breaks. It\u2019s incredibly devastating.\u201d<\/p>\n<p>Earlier studies have focused on trying to alleviate the motor problems associated with Huntington\u2019s \u2013 such as the involuntary dance-like muscle movements called chorea. But few studies have looked at preventing the cognitive and psychiatric aspects, Southwell says. \u201cIf you talk to HD patients and families, these are the things that have the biggest negative impact on their quality of life,\u201d she explained.<\/p>\n<p>Southwell worked with Ionis Pharmaceuticals to develop modified pieces of DNA called antisense oligonucleotides (ASOs). Once injected into the cerebrospinal fluid &#8212; the fluid that bathes the brain &#8212; the ASOs keep cells from producing mutant huntingtin.<\/p>\n<p>After being injected with ASOs, mice with cognitive and psychiatric abnormalities similar to those in human Huntington\u2019s patients became less depressed and anxious, with restored learning abilities and no observable side effects, Southwell says. With the most potent ASO compound, benefits were seen more than 10 months after a single injection.<\/p>\n<p>More testing is needed to better assess how well this could work in humans, but Southwell and patients like Miller are hopeful.<\/p>\n<p>\u201cIt gives us hope to know that we have the advantage of someone fighting for us. We just can&#8217;t wait to see how her research continues to unfold,\u201d Miller says.<\/p>\n<p>Since the disease progresses in stages, Miller is left with the gnawing uncertainty of what happens next. He and his wife have decided against having kids, worried not only about passing the disease along to their children, but also about how watching their father \u201cdeteriorate\u201d would harm their offspring.<\/p>\n<p>\u201cProbably not knowing exactly when it\u2019s going to start kicking your life in the chest is the hardest part about having it,\u201d he says. \u201cHow long is it going to take before you eventually are just helpless?\u201d<\/p>\n","protected":false},"excerpt":{"rendered":"At 27, Danny Miller expected himself to be his company\u2019s \u201cyoung gun\u201d diesel mechanic. But then he began noticing involuntary muscle movements in his face, hands and feet. He felt weak. His memory was fading. Doctors gave him a heartbreaking diagnosis: Huntington\u2019s disease, an incurable neurodegenerative disease that causes severe mood changes, cognitive decline and early death. Scientists describe Huntington\u2019s&hellip;","protected":false},"author":152,"featured_media":91786,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"lazy_load_responsive_images_disabled":false,"footnotes":"","_links_to":"","_links_to_target":"","_wp_rev_ctl_limit":""},"categories":[12,17,23],"tags":[979,15761,14916],"tu_author":[],"class_list":["post-91785","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-health","category-medicine","category-research","tag-college-of-medicine","tag-pegasus-briefs","tag-research"],"yoast_head":"<!-- This site is optimized with the Yoast SEO Premium plugin v22.3 (Yoast SEO v27.5) - https:\/\/yoast.com\/product\/yoast-seo-premium-wordpress\/ -->\n<title>UCF Researcher: Targeting Mutant Gene May Prevent Huntington\u2019s Symptoms | University of Central Florida News<\/title>\n<meta name=\"description\" content=\"At 27, Danny Miller expected himself to be his company\u2019s \u201cyoung gun\u201d diesel mechanic. 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