{"id":11014,"date":"2011-10-12T08:09:00","date_gmt":"2011-10-12T15:09:00","guid":{"rendered":"https:\/\/dornsife.usc.edu\/news\/stories\/usc-scientist-targets-genetic-cause-of-infant-mortality\/"},"modified":"2023-04-19T11:20:51","modified_gmt":"2023-04-19T18:20:51","slug":"usc-scientist-targets-genetic-cause-of-infant-mortality","status":"publish","type":"post","link":"https:\/\/dornsife.usc.edu\/news\/stories\/usc-scientist-targets-genetic-cause-of-infant-mortality\/","title":{"rendered":"USC Scientist Targets Genetic Cause of Infant Mortality"},"content":{"rendered":"\n\n\n    \n            \n\n  \n    \n\n\n\n\n\n\n<div\n  class=\"cc--component-container cc--article-hero \"\n\n  \n  \n  \n  \n  \n  \n  >\n  <div class=\"c--component c--article-hero\"\n    \n      >\n\n    \n<div class=\"inner-wrapper\">\n  \n  \n  <div class=\"text-wrapper\">\n          <nav aria-label=\"Breadcrumb\" class=\"breadcrumbs\">\n        <ul>\n                      <li><a 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class=\"a2a_label visually-hidden\">Email<\/span>\n          <\/a>\n                  <\/span>\n  <\/div>\n\n  <\/div><\/div>\n  \n\n  \n    \n\n\n\n\n\n\n<div\n  class=\"cc--component-container cc--rich-text \"\n\n  \n  \n  \n  \n  \n  \n  >\n  <div class=\"c--component c--rich-text\"\n    \n      >\n\n    \n      \n<div class=\"f--field f--wysiwyg\">\n\n    \n  <p>The disease is heartbreaking. It turns babies into ragdolls and  extinguishes lives just as they are getting started. But one USC Dornsife scientist is working to unravel the mystery behind the leading genetic  cause of infant mortality, uncovering how Spinal Muscular Atrophy (SMA)  disconnects muscles from the mind.<\/p>\n<p>SMA is a neurodegenerative disease caused by a recessive gene  mutation that results in a deficiency of the Survival of Motor Neuron,  or SMN, protein. In a phenomenon called denervation, neurons lose their  physical connection to muscles, resulting in a loss of motor control and  muscle weakness.<\/p>\n<p>A team of researchers led by Chien-Ping Ko, professor of biological sciences, has generated the first extensive  study of severe denervation occurring in specific muscles affected by  SMA. The data allows them to measure the effectiveness of drug  treatments and will act as a springboard for future research that  explores the cause of SMA.<\/p>\n<p>One in every 40 to 50 people carries the gene for SMA. If two  carriers have a child together, there is a 25 percent chance that the  child will be affected. As a result, one in every 6,000 to 10,000 babies  is born with SMA.<\/p>\n<p>While SMA has multiple types varying in symptom severity and life  expectancy, in its most severe type, SMA prevents babies from even being  able to sit up. The prognosis in these cases is not good&nbsp;&mdash; most die  before reaching the age of 2.<\/p>\n<p>&ldquo;That&rsquo;s why you don&rsquo;t often hear of this disease,&rdquo; Ko said. &ldquo;They die so young.&rdquo;<\/p>\n<p>Ko and his team are working to pull back the shroud and understand  SMA better by tracing neurons down to specific muscles in mice affected  by SMA to see exactly where the disease takes its toll.<\/p>\n<p>&ldquo;We are interested in what happens at the neuromuscular junction,&rdquo;  said Ko, who worked with USC graduate researchers Karen K. Y. Ling,  Rebecca M. Gibbs and Zhihua Feng. Their study was published online this  month by <em>Human Molecular Genetics<\/em> in advance of appearing in a print edition of the journal.<\/p>\n<p>The results were odd, but enlightening. Muscles along the spine and  hindquarters down to the legs showed varying &mdash; not uniform &mdash; degrees of  denervation. For example, several muscles controlling movement in the  head and neck were severely affected, while other neighboring muscles  were barely affected at all. Many of the affected muscles are involved  in vital motor functions that are lost in patients, such as breathing,  feeding and posture.<\/p>\n<p>&ldquo;So far, we don&rsquo;t know the mechanism causing the loss of synapses in  some muscles and not in others,&rdquo; Ko said. &ldquo;But this is a good  preparation to study that.&rdquo;<\/p>\n<p>In addition, the knowledge of which muscles are affected and by how  much is allowing pharmaceutical companies to quantitatively gauge the  results of drug trials.<\/p>\n<p>For example, although trichostatin A has been known to fight the  disease in SMA animal models, Ko was able to determine exactly how much  it reversed denervation in each individual muscle.<\/p>\n<p>Ko is showing drug companies how to replicate his technique so that they can develop more effective drugs.<\/p>\n<p>&ldquo;Maybe we will have a way to mitigate or prevent the loss,&rdquo; Ko said.<\/p>\n<p>The research was funded by the National Institutes of Health, the  Muscular Dystrophy Association, the Spinal Muscular Atrophy Association  and the Families of SMA.<\/p>\n\n\n\n<\/div>\n\n\n  <\/div><\/div>\n","protected":false},"excerpt":{"rendered":"","protected":false},"author":0,"featured_media":11017,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[10],"tags":[117,584,1788,96],"class_list":["post-11014","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-faculty","tag-biology","tag-chien-ping-ko","tag-genes","tag-natural-sciences"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.7 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>USC Scientist Targets Genetic Cause of Infant Mortality<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" 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