A study done in the United States has discovered a new molecular path that leads to autism, potentially opening the way for more intervention in the future.<\/p>\n
The study led by University of Nevada, Las Vegas, (UNLV) chemistry and biochemistry assistant professor Dr \u0141ukasz Sznajder was published on April 21 (2025) in the journal Nature Neuroscience.<\/p>\n
It found that a gene that causes myotonic dystrophy \u2013 a genetic condition that creates progressive muscle weakness \u2013 also causes autism spectrum disorder.<\/p>\n
Researchers say the study can help with new diagnoses, prevention and treatment of autism.<\/p>\n
\u201cThis is a landmark example of an RNA-mediated pathway to autism.<\/p>\n
\u201cIt doesn\u2019t account for all of autism, but it exposes one route among the many that lead to the spectrum,\u201d said Columbia University clinical psychiatry assistant professor Dr Ryan Sultan.<\/p>\n
A genetic link<\/strong><\/p>\n Ample research shows that autism is a genetic disorder \u2013 it is around 60% to 90% genetics, which leaves some room for environmental factors.<\/p>\n The research, however, has been far less conclusive on what those genes and mutations are, Assist Prof Sznajder said.<\/p>\n Different studies have shown a \u201claundry list\u201d of genes that may contribute to autism.<\/p>\n Around 95% of children with autism have at least one extra condition, he pointed out.<\/p>\n As a geneticist, he had long noticed a high crossover between people suffering from myotonic dystrophy and autism.<\/p>\n So, he posed the question: \u201cWhat is happening in the brains of people with myotonic dystrophy on the molecular level, and what is happening in the brains of people with autism?\u201d<\/p>\n Partnering with researchers at the University of Florida in the US, as well as in Poland and Canada, the team found that changes in the DMPK gene that cause myotonic dystrophy also cause autism-related genes to be \u201cmis-spliced\u201d, so multiple autism-related genes work differently.<\/p>\n When mutated DMPK RNAs (ribonucleic acids) are created, they act as a sponge and absorb otherwise healthy proteins from the muscleblind-like (MBNL) family of genes, disrupting muscle and brain development.<\/p>\n \u201cMany people with myotonic dystrophy also have autism, but it wasn\u2019t clear why.<\/p>\n \u201cHere, the scientists have found the mechanism for this; the DMPK gene regulates known autism risk genes that are important for nervous system function,\u201d University of Texas at Austin assistant professor of neurology and paediatrics Dr Audrey Brumback said.<\/p>\n She added that it is important because it has the potential to develop treatments that target mis-splicing, so that the healthy versions of the proteins are produced.<\/p>\n Assist Prof Sultan said: \u201cThe message is that autism can sometimes arise from changes not in the DNA sequence of an autism gene, but in how that gene\u2019s information is sliced and diced in the brain.<\/p>\n \u201cIt\u2019s a more nuanced genetic influence \u2013 one that was invisible to us until techniques like RNA sequencing revealed it.\u201d<\/p>\n \u2018Connecting the dots\u2019<\/strong><\/p>\n Assist Prof Sznajder hopes that the research will help design new diagnostic tools and screen children with myotonic dystrophy for autism, and vice versa.<\/p>\n He also said that clinical trials for myotonic dystrophy could be used for treatment or prevention of autism.<\/p>\n \u201cIt\u2019s exactly connecting those dots,\u201d he said.<\/p>\n \u201cAs we understand the linkage between gene and autism, now we can think about intervention.\u201d<\/p>\n It also opens questions for whether it can help with other versions of autism disorder as well.<\/p>\n \u201cCan we identify the core of what has to happen for someone to develop autism spectrum disorder?<\/p>\n \u201cCan we prevent that in the future?<\/p>\n \u201cThe research that we\u2019ve done is opening the door to those questions,\u201d Assist Prof Sznajder said. \u2013 By Katie Futterman\/Las Vegas Review-Journal\/Tribune News Service<\/p>\n","protected":false},"excerpt":{"rendered":"A study done in the United States has discovered a new molecular path that leads to autism, potentially…\n","protected":false},"author":2,"featured_media":101373,"comment_status":"","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[3846],"tags":[663,46973,46974,389,267,70,16,15],"class_list":{"0":"post-101372","1":"post","2":"type-post","3":"status-publish","4":"format-standard","5":"has-post-thumbnail","7":"category-genetics","8":"tag-autism","9":"tag-autism-spectrum-disorder","10":"tag-child-health","11":"tag-children","12":"tag-genetics","13":"tag-science","14":"tag-uk","15":"tag-united-kingdom"},"share_on_mastodon":{"url":"https:\/\/pubeurope.com\/@uk\/114507421206473348","error":""},"_links":{"self":[{"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/posts\/101372","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/comments?post=101372"}],"version-history":[{"count":0,"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/posts\/101372\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/media\/101373"}],"wp:attachment":[{"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/media?parent=101372"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/categories?post=101372"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/tags?post=101372"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}