The protein CPEB4, which coordinates the expression of hundreds of genes required for neuronal activity, is altered in the brains of individuals with autism
Published in Nature, the study indicates that a defect in CPEB4 could be the link between environmental factors that alter brain development and the genes that determine susceptibility to autism
Most individuals with autism spectrum disorder cannot be distinguished by physical traits or by severe neurological symptoms. In fact, these cases can be identified only on the basis of certain behaviour, namely their obsessive focus on certain activities, and difficulties with social communications and interactions. Recent years have brought about important breakthroughs in autism research through the genetic analysis of thousands of these individuals. Researchers have been able to find correlations between defects in the expression and/or function of about 200 genes and susceptibility to autism. However, the bases underlying the dysregulation of these genes in subjects with autism were unknown.
An international team headed by José Lucas, researcher at the Spanish National Research Council (CSIC) and the Network Center for Biomedical Research in Neurodegenerative Diseases (CIBERNED), and by Raúl Méndez, researcher at the Institute for Research in Biomedicine (IRB Barcelona), has discovered that CPEB4, a molecule that regulates protein synthesis, is impaired in most cases of autism. The scientists observed that the defects in CPEB4 lead to the dysregulation in the expression of most of these 200 genes. The study has been published in the journal Nature.
“Upon studying the changes in protein expression in a mouse model with altered CPEB4 activity, we were surprised to observe that the changes included most of the genes that predispose individuals to autism spectrum, disorder,” says José Lucas, the coordinator of the study.
Raúl Méndez, ICREA researcher and head of the Translational Control of Cell Cycle and Differentiation Labat IRB Barcelona and co-leader of the study, explains that, “this study is an example of how the expression of hundreds of genes must be perfectly coordinated to ensure the correct function of organs and the cells that make up these organs. In this case the brain and neurons”.
Environmental factors that alter brain development, such as infections during pregnancy, can also contribute to the onset of autism. “Since CPEB4 is known to regulate numerous genes during embryonic development, this protein emerges as a possible link between environmental factors that alter brain development and the genes that predispose to autism,” explains Alberto Parras, first author of the study and research at the Centro de Biología Molecular Severo Ochoa (joint centre between CSIC and the Universidad Autónoma de Madrid).
“Understanding the biological bases of autism may facilitate the design of future experimental treatments and diagnosis tools for this condition. Although futher research is required, CPEB4 emerges as a potential new therapeutic target,” conclude the researchers.
The Latest on: Autism
via Google News
The Latest on: Autism
- Study reveals kids with autism up to 160 times more likely to drown than peers, parents urged to make swimming lessons first priorityon January 13, 2021 at 7:20 am
In its National Drowning Report 2020, the peak water safety body details a study of 667 drowning cases of those aged 0-19 years with a medical history. It found the highest rates of drowning were for ...
- Video: Parenting for a child with autism during the COVID pandemicon January 13, 2021 at 6:22 am
The coronavirus pandemic has disrupted all of our lives in 2020, but it's been particularly challenging for families with individuals who have developmental disorders.
- Studies Indicate How Mosaic Mutations Contribute to Autism Riskon January 13, 2021 at 5:00 am
Results of two studies could ultimately point to the devleopment of diagnostic tests for children with autism.
- Boosted by celebrity endorsements and a controversial research program, clinics are peddling stem cell autism treatments questioned by expertson January 13, 2021 at 3:31 am
A research program into stem cells and autism is attracting criticism. Experts say it is unwittingly boosting a market in unlicensed treatments.
- Council of Autism Service Providers Announces the Hiring of Judith Ursittion January 12, 2021 at 10:45 pm
The Council of Autism Service Providers (CASP) today announced the appointment of Judith Ursitti, CPA, as its new Vice President of Community Affairs. “I am ecstatic to have Judith Ursitti join CASP,” ...
- Allegheny County Caretaker Charged With Attacking Man With Autism And Intellectual Disabilitieson January 12, 2021 at 8:42 pm
A caretaker in Allegheny County is charged with attacking a man with autism and intellectual disabilities. Sean Killinger, 29, is accused of assaulting the man, who suffered a fractured collarbone.
- Families report benefits of cats for kids with autismon January 12, 2021 at 10:52 am
Cats may help increase empathy and decrease separation anxiety for children with autism, research finds. The findings could be useful for families considering adopting a companion animal for their ...
- Cats may help increase empathy, decrease anxiety for kids with autismon January 12, 2021 at 8:45 am
As a former school nurse in the Columbia Public Schools, Gretchen Carlisle would often interact with students with disabilities who took various medications or had seizures throughout the day. At some ...
- Watch for Suicidality in People With Autismon January 12, 2021 at 8:07 am
People with autism spectrum disorder (ASD) carry a higher risk for suicide, a Danish study found. A nationwide cohort study of over 35,000 individuals with autism found a more than three-fold higher ...
via Bing News