{"id":1071,"date":"2020-08-26T09:33:00","date_gmt":"2020-08-26T09:33:00","guid":{"rendered":"https:\/\/clinlabint.3wstaging.nl\/cause-of-fatal-childhood-disorder-revealed-in-gene-study\/"},"modified":"2021-01-08T11:09:30","modified_gmt":"2021-01-08T11:09:30","slug":"cause-of-fatal-childhood-disorder-revealed-in-gene-study","status":"publish","type":"post","link":"https:\/\/clinlabint.com\/cause-of-fatal-childhood-disorder-revealed-in-gene-study\/","title":{"rendered":"Cause of fatal childhood disorder revealed in gene study"},"content":{"rendered":"<p><span lang=\"EN-GB\">A gene involved in brain development that can lead to severe disability and infant death has been identified by scientists.<\/span><br \/>\n<span lang=\"EN-GB\">Mutations in the gene cause profound developmental problems and seizures in young children, researchers have found.<\/span><br \/>\n<span lang=\"EN-GB\">Scientists and doctors worked with children with a range of severe problems, including seizures and abnormal brain scans, and discovered that the infants all had mutations in a gene known as PLAA. The researchers have named the condition PLAA-associated neurodevelopment disorder, or PLAAND.<\/span><br \/>\n<span lang=\"EN-GB\">By making a mouse with the same mutation as found in patients, the team \u2013 led by the University of Edinburgh \u2013 showed how this gene had to function properly for the healthy brain to develop.<\/span><br \/>\n<span lang=\"EN-GB\">PLAA is essential for signalling cells to clear build-up of damaged proteins, which is crucial for brain cell function, the researchers say.<\/span><br \/>\n<span lang=\"EN-GB\">Cells in children with PLAAND have lost this ability and damaged proteins build up, causing severe problems in brain development and at synapses \u2013 parts of brain cells that communicate with other cells.<\/span><br \/>\n<span lang=\"EN-GB\">Insights learned from the study may enable scientists to uncover new drugs to treat this rare disease. They could also shed light on conditions such as Alzheimer\u2019s disease, in which there is also an issue with damaged protein build up.<\/span><br \/>\n<span lang=\"EN-GB\">Pinpointing mutations in this gene that lead to such severe outcomes in the affected children is an important advance.<\/span><br \/>\n<span lang=\"EN-GB\">Children affected with PLAAND die before the age of six and most heart-breaking for their families is that they fail to meet any developmental milestones. There is no treatment currently available. In identifying this gene and the processes it controls, we have made significant steps in understanding its role in healthy brain development, which will help us target drug studies in future.<\/span><\/p>\n<p><span lang=\"EN-GB\">University of Edinburgh<\/span><br \/>\n<span lang=\"EN-GB\"><link http:\/\/www.ed.ac.uk\/news\/2017\/fatal-childhood-disorder-gene>www.ed.ac.uk\/news\/2017\/fatal-childhood-disorder-gene<\/link><\/span><\/p>\n","protected":false},"excerpt":{"rendered":"<p>A gene involved in brain development that can lead to severe disability and infant death has been identified by scientists. Mutations in the gene cause profound developmental problems and seizures in young children, researchers have found. Scientists and doctors worked with children with a range of severe problems, including seizures and abnormal brain scans, and [&hellip;]<\/p>\n","protected":false},"author":2,"featured_media":0,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_monsterinsights_skip_tracking":false,"_monsterinsights_sitenote_active":false,"_monsterinsights_sitenote_note":"","_monsterinsights_sitenote_category":0,"footnotes":""},"categories":[35],"tags":[],"_links":{"self":[{"href":"https:\/\/clinlabint.com\/wp-json\/wp\/v2\/posts\/1071"}],"collection":[{"href":"https:\/\/clinlabint.com\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/clinlabint.com\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/clinlabint.com\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/clinlabint.com\/wp-json\/wp\/v2\/comments?post=1071"}],"version-history":[{"count":0,"href":"https:\/\/clinlabint.com\/wp-json\/wp\/v2\/posts\/1071\/revisions"}],"wp:attachment":[{"href":"https:\/\/clinlabint.com\/wp-json\/wp\/v2\/media?parent=1071"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/clinlabint.com\/wp-json\/wp\/v2\/categories?post=1071"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/clinlabint.com\/wp-json\/wp\/v2\/tags?post=1071"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}