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Tech & Science 'An important piece of the puzzle': Scientists discover why gene mutation leads to autism

16:00  06 december  2019
16:00  06 december  2019 Source:   usatoday.com

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' An important piece of the puzzle ': Scientists discover why gene mutation leads to autism . The researchers determined mutations in a gene called Usp9x lead to the brain growing fewer synapses, the junctions between neurons that transmit and receive electrical signals.

Researchers have discovered how mutations in a gene called UBE3A cause autism , and reveal that some existing Though previous research has associated numerous different gene mutations with autism , exactly how these mutations contribute to the development of the condition has been unclear.

The search for the reasons behind intellectual disabilities and autism in children has just advanced by a significant step.

Diagnosing Autism © ALTENUS_AppEx_Health_and_Fitness Diagnosing Autism

Scientists at Northwestern University outside Chicago have discovered why these conditions develop in the nascent brain, raising hopes that better treatment for them can be found.

The researchers determined mutations in a gene called Usp9x lead to the brain growing fewer synapses, the junctions between neurons that transmit and receive electrical signals. That results in decreased communication between the brain cells, which is critical for learning.

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  Alzheimer's: Woman With Extremely Rare Gene Mutation That Protects Her From Dementia Discovered The woman was part of a group of families genetically predisposed to developing Alzheimer's in their forties.The woman was part of a group of Colombian families likely to develop autosomal dominant Alzheimer's disease (ADAD), who researchers have been studying for the past two decades. These 1,200 individuals carry a mutation in their genes that can cause them to develop Alzheimer's in their forties. Most people develop the disease above the age of 65.

The scientists found eight autism -associated mutations clustered within a small region of the Trio protein. He explores how disruption of those mechanisms might lead to neurodevelopmental and Most of the autism -related mutations discovered in this study prevent the Trio protein's ability to

The scientists found eight autism -associated mutations clustered within a small region of the Trio protein. He explores how disruption of those mechanisms might lead to neurodevelopmental and Most of the autism -related mutations discovered in this study prevent the Trio protein's ability to

Children with the mutation not only show developmental delays and difficulty learning, but also heightened anxiety and hyperactivity.

“We have solved an important piece of the puzzle in understanding how this mutation causes intellectual disabilities and mental illness,” said Peter Penzes, director of the Center for Autism and Neurodevelopment at Northwestern’s medical school and lead author of a paper on the subject that will be published Thursday in the journal Neuron.

According to the Centers for Disease Control and Prevention, 1 in 59 children in the U.S. is diagnosed with autism spectrum disorder (ASD), a developmental disability that affects communication, behavior and interaction with other people. Boys are four times more likely to be diagnosed than girls, and the symptoms usually appear in the first few years of a child’s life.

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Researchers discover a large number of mutations clustered in a single gene that disrupt the development of the brain’s connections and likely Contact: Emily Gersema at (213) 361-6730 or gersema@usc.edu. Scientists have identified a hotspot for autism -related mutations in a single gene .

Scientists discovered how a gene mutation affects T cell function to promote immune disorders and then tested a treatment based on the discovery —successfully 30 in Nature Communications. The discovery centers on mutation of the gene Gimap5, which is important to the healthy formation and

The advocacy organization Autism Speaks says 31% of children on the spectrum have an intellectual disability. The CDC points out that, while there’s currently no cure ASD, early diagnosis and intervention can enhance development.

Penzes said the new findings could have several implications regarding treatment.

“Autism and intellectual disability (ID) are very heterogenous diseases,’’ Penzes said via email. “If we try to treat them only based on symptoms, it may be very challenging. But if we understand the genetic cause of each patient’s type of autism, we can use this knowledge to classify and treat subtypes of autism and ID based on what molecular pathways are altered.’’

In addition, Usp9x has been linked to cancer, which has drawn the interest of drug makers. That might provide a leg up on finding new ways to treat neurodevelopmental disorders that include not only ASD and intellectual disability but also schizophrenia and bipolar disorder.

“We will start by searching byproducts of recent cancer drug screens,’’ Penzes said. “This could be a shortcut to finding a drug for some patients.’’

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Per a new research, scientists discovered 28 new types of ancient viruses that have been trapped inside a Tibetan ice glacier for 15,000 years.Recently, however, scientists broke up the millennia-long party by taking a look at the Tibetan glacier’s two ice cores, revealing around 28 new virus groups that we have never seen before.

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