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Why do people with autism tend to repeat themselves? It may be genetics

April is Autism Awareness Month and even MIT scientists are getting in on the action with compelling new genetic research… Researchers now suspect that there are risk genes driving specific autism symptoms, such as repetitive behaviors.

The study…looked at an ASD-associated gene known as SHANK3, [which] is a scaffolding protein that organizes the flow of neurons in the synapses. Researchers found that SHANK3-deficient mice displayed repetitive behaviors, both in regards to grooming and social interactions.

Imbalances in neural pathways may contribute to repetitive behaviors in autism

Genetic studies have linked a number of risk genes to autism spectrum disorder (ASD).

Although the complex genetics underlying ASD likely involve interactions between many genes, some risk genes are singular drivers of autism-like behaviors in rodent models, particularly genes that guide synaptic development and function. One such ASD-associated gene encodes SHANK3, a scaffolding protein that organizes neurotransmitter receptors and their intracellular effectors in neuronal synapses. SHANK3-deficient display repetitive grooming behavior, as well as social interaction deficits and, are considered to be an experimental model for autism.

Glial cells in brain can control appetite

Glial cells control the appetite and feeding behavior. MIT neuroscientists have discovered the role of brain cells called glial cells in appetite control in a recent study. The researchers found that glial cells activation leads to overeating and the suppression of these cells, suppress appetite in mice.

The results of this study might help scientists for developing drugs against obesity and other appetite-related problems. This study is considered to be the latest one on glial cells in important brain functions. Earlier the role of glial cells was considered as supporting neurons.

A new player in appetite control

Brain cells that provide structural support also influence feeding behavior, study shows.

MIT neuroscientists have discovered that brain cells called glial cells play a critical role in controlling appetite and feeding behavior. In a study of mice, the researchers found that activating these cells stimulates overeating, and that when the cells are suppressed, appetite is also suppressed.

The findings could offer scientists a new target for developing drugs against obesity and other appetite-related disorders, the researchers say. The study is also the latest in recent years to implicate glial cells in important brain functions. Until about 10 years ago, glial cells were believed to play more of a supporting role for neurons.

Study reveals a basis for attention deficits

New findings could help scientists develop treatments for ADHD and other disorders.

More than 3 million Americans suffer from attention deficit hyperactivity disorder (ADHD), a condition that usually emerges in childhood and can lead to difficulties at school or work.

A new study from MIT and New York University links ADHD and other attention difficulties to the brain’s thalamic reticular nucleus (TRN), which is responsible for blocking out distracting sensory input. In a study of mice, the researchers discovered that a gene mutation found in some patients with ADHD produces a defect in the TRN that leads to attention impairments.

Neuroscientists reverse autism symptoms

Turning on a gene later in life can restore typical behavior in mice.

Autism has diverse genetic causes, most of which are still unknown. About 1 percent of people with autism are missing a gene called Shank3, which is critical for brain development. Without this gene, individuals develop typical autism symptoms including repetitive behavior and avoidance of social interactions.

In a study of mice, MIT researchers have now shown that they can reverse some of those behavioral symptoms by turning the gene back on later in life, allowing the brain to properly rewire itself.

One Gene, Two Disorders

Mutations in a single gene can play roles in multiple neurological disorders, such as schizophrenia and bipolar disorder. Neuroscientists at MIT have identified a gene, Shank3, that plays a functional role in both schizophrenia and autism, they reported yesterday (December 10) in Neuron.

“This study gives a glimpse into the mechanism by which different mutations within the same gene can cause distinct defects in the brain, and may help to explain how they may contribute to different disorders,” study co-author Guoping Feng of MIT said in a press release.

Shank3 codes for a protein that organizes molecules across a neuronal synapse. By mutating the gene to remove the protein altogether, the researchers previously showed that they could induce autism-like traits in mice. In 2010, researchers from the University of Montreal linked the gene to schizophrenia.

How one gene contributes to two diseases

Neuroscientists unravel Shank3 gene’s role in autism and schizophrenia.

Although it is known that psychiatric disorders have a strong genetic component, untangling the web of genes contributing to each disease is a daunting task. Scientists have found hundreds of genes that are mutated in patients with disorders such as autism, but each patient usually has only a handful of these variations.

To further complicate matters, some of these genes contribute to more than one disorder. One such gene, known as Shank3, has been linked to both autism and schizophrenia.

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