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Autism: A Case Study - Biomatics.org

Autism: A Case Study

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What is Autism Spectrum Disorder?

Photo: Child playing with blocks

Autism spectrum disorder (ASD) is a developmental disability  that can cause significant social, communication and behavioral challenges. There is often nothing about how people with ASD look that sets them apart from other people, but people with ASD may communicate, interact, behave, and learn in ways that are different from most other people. The learning, thinking, and problem-solving abilities of people with ASD can range from gifted to severely challenged. Some people with ASD need a lot of help in their daily lives; others need less.

A diagnosis of ASD now includes several conditions that used to be diagnosed separately: autistic disorder, pervasive developmental disorder not otherwise specified (PDD-NOS), and Asperger syndrome. These conditions are now all called autism spectrum disorder.



Autism: Many Genes, Common Pathways?

Autism is a heterogeneous neurodevelopmental syndrome with a complex genetic etiology. It is still not clear whether autism comprises a vast collection of different disorders akin to intellectual disability or a few disorders sharing common aberrant pathways. Unifying principles among cases of autism are likely to be at the level of brain circuitry in addition to molecular pathways.


Autism breakthrough: One protein's sweeping influence on development of autism revealed

A drop in one protein is enough to cause autism, according to the results of a new study. Scientists were able to trigger autistic-like behavior in mice that were engineered to have lower levels of the nSR100 protein, which had previously been found to be reduced in the brains of patients with ASD.


Key protein involved in the development of autism discovered

Researchers have been able to find correlations between defects in the expression and/or function of about 200 genes and susceptibility to autism.



August 16, 2018


Institute for Research in Biomedicine (IRB Barcelona)


The protein CPEB4, which coordinates the expression of hundreds of genes required for neuronal activity, is altered in the brains of individuals with autism, according to new research.

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.


"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.


"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,"


"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,"





Proteins Commonly Linked to Autism Spectrum Disorder and Alzheimer's Disease


Several years after the first publication of Barker's Hypothesis the identification of common patterns and pathways between genetic and epigenetic risk factors in neurodegenerative disorders is still an open problem. For the cases of Alzheimer's disease and Autism and by taking into consideration the increasing number of diagnosed cases globally, scientists focused on commonly expressed and related proteins like Amyloid beta and the mechanisms of their underlying dysfunctionalities. In this review paper, an attempt to specify significant correlations between proteins linked to Autism Spectrum Disorders and Alzheimer’s Disease is presented. Both diseases are highlighted with an emphasis on the macromolecules that play a fundamental role in their development. These proteins are described and analyzed concerning the underlying pathology of these diseases.

Keywords: Autism spectrum disorder, Alzheimer’s disease, proteins, developmental origins of health and diseases, neurological symptoms.


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