Could poor protein trafficking be a factor in autism? : Medical News Today


A protein whose mutations are found in people with autism and other neurodevelopmental conditions helps keep connections between neurons in the brain running smoothly.

Newly published research — led by Rockefeller University in New York City, NY — reveals that the protein astrotactin 2 (ASTN2) can traffick receptors away from neurons’ surfaces and prevent them from accumulating there.

Connections between neurons are essential to brain function.

They work because receptors, which sit on the surfaces of cells, are always ready to partner with incoming neurotransmitters from other cells.

The process is dynamic and needs a continual cycle of receptors “on and off” the cell membrane to ensure rapid response to signals. Trafficking proteins help keep the receptors moving.

The recent study, which now features in the Proceedings of the National Academy of Sciences, has also suggested a mechanism through which autism spectrum disorders (ASDs), such as the neurodevelopmental condition autism, could arise from defects in ASTN2.

The exact causes of neurodevelopmental conditions are largely unknown, though many signs can be traced to early brain development. Scientists believe that the origins are complex and involve genetic, biological, and environmental factors.

According to the Centers for Disease Control and Prevention (CDC), around 1 in 68 children from the United States have been “identified with ASD,” with boys over four times more likely be identified with it than girls.

Trafficking proteins

 

Source: Could poor protein trafficking be a factor in autism? : Medical News Yoday

Latest CDC autism figures show 15 percent rise : Medical News Today


The latest analysis published by the Centers for Disease Control and Prevention concludes that autism might be more prevalent than previously estimated. They are now calling for more effort to be made toward early detection.

Autism spectrum disorders (ASD) are conditions that affect development. They impact the ways a person interacts with other people and alter how they perceive the world.

And, though every case is different, the most common symptoms include delayed speech development, trouble interacting with peers, and repetitive behaviors.

As for prevalence, in 2016, the Centers for Disease Control and Prevention (CDC) estimated that it affected 1 in 68 children — about 1.5 percent of all children. However, this week, they updated this estimate.

 

Source: Latest CDC autism figures show 15 percent rise : Medical News Today

Females with autism show greater difficulty with day-to-day tasks than male counterparts: — ScienceDaily


Women and girls with autism may face greater challenges with real world planning, organization and other daily living skills, according to a new study.

Source: Females with autism show greater difficulty with day-to-day tasks than male counterparts: Largest study to date of executive function in females with autism spectrum disorders (ASD) reveals unique challenges in diagnosis and intervention — ScienceDaily

Swimming lessons may be life-saver for children with autism – Medical News Today


A new study looking at injury mortality in people with autism finds that accidental deaths are common and that swimming lessons could save lives.

Source: Swimming lessons may be life-saver for children with autism – Medical News Today

Autism-linked protein crucial for feeling pain – Medical News Today


Sensory problems are common to autism spectrum disorders. Some individuals with autism may injure themselves repetitively – for example, pulling their hair or banging their heads – because they’re less sensitive to pain than other people.

New research points to a potential mechanism underlying pain insensitivity in autism. The study, conducted by two teams at Duke University and appearing online in the journal Neuron, is the first to connect autism to one of the most well-studied pain molecules, called TRPV1 (transient receptor potential ion channel subtype V1), which is a receptor for the main spicy component of chili peppers.

“Not enough research has been done on the mechanisms driving sensory problems in autism, but it’s important because sensory processing probably affects to some degree how the brain develops,” said co-author Yong-hui Jiang, M.D., Ph.D., associate professor of pediatrics and neurobiology at Duke. Jiang collaborated with Ru-Rong Ji, Ph.D., professor of anesthesiology and neurobiology and chief of pain research in Duke University School of Medicine’s Department of Anesthesiology.

Source: Autism-linked protein crucial for feeling pain – Medical News Today

New form of autism found – Medical News Today


Autism spectrum disorders affect around one percent of the world’s population and are characterized by a range of difficulties in social interaction and communication. In a new study published in Cell, a team of researchers led by Gaia Novarino, Professor at IST Austria, has identified a new genetic cause of ASD. Gaia Novarino explains why this finding is significant: “There are many different genetic mutations causing autism, and they are all very rare. This heterogeneity makes it difficult to develop effective treatments. Our analysis not only revealed a new autism-linked gene, but also identified the mechanism by which its mutation causes autism. Excitingly, mutations in other genes share the same autism-causing mechanism, indicating that we may have underscored a subgroup of ASDs.”

“The identification of novel genes, especially in heterogeneous diseases such as autism, is difficult. However, as result of a collaborative effort, we were able to identify mutations in a gene called SLC7A5 in several patients born to consanguineous marriages and diagnosed with syndromic autism”, points out Dr. Caglayan, Chairman of the Department of Medical Genetics in the School of Medicine at Istanbul Bilim University in Turkey and co-author of the study.

Source: New form of autism found – Medical News Today

Autism-linked protein crucial for feeling pain – Medical News Today


Sensory problems are common to autism spectrum disorders. Some individuals with autism may injure themselves repetitively – for example, pulling their hair or banging their heads – because they’re less sensitive to pain than other people.

New research points to a potential mechanism underlying pain insensitivity in autism. The study, conducted by two teams at Duke University and appearing online in the journal Neuron, is the first to connect autism to one of the most well-studied pain molecules, called TRPV1 (transient receptor potential ion channel subtype V1), which is a receptor for the main spicy component of chili peppers.

“Not enough research has been done on the mechanisms driving sensory problems in autism, but it’s important because sensory processing probably affects to some degree how the brain develops,” said co-author Yong-hui Jiang, M.D., Ph.D., associate professor of pediatrics and neurobiology at Duke. Jiang collaborated with Ru-Rong Ji, Ph.D., professor of anesthesiology and neurobiology and chief of pain research in Duke University School of Medicine’s Department of Anesthesiology.

Source: Autism-linked protein crucial for feeling pain – Medical News Today