Doctors Unveil New Autism Trigger: 14 Times More Likely

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Experts suggest that autism could be triggered by a lesser-known genetic disorder.

Children diagnosed with myotonic dystrophy type 1 (DM1) are also 14 times more prone to developing autism spectrum disorder.

DM1 is an inherited condition that leads to gradual weakening and tiredness of muscles, along with various cognitive challenges.

Specialists think it might influence the development and processing of information in the brain during early stages of growth, possibly modifying neural routes connected to communication, conduct, and social engagement. hallmarks of autism .

This finding might aid in unraveling some aspects of it. puzzle surrounding the development of autism , offering crucial insights into its origins in biology.

DM1 is triggered by a defective gene, and researchers now think this same gene might be involved in autism as well.

The researchers indicated that these discoveries bring us nearer to comprehending autism not merely as a spectrum, but as an condition with identifiable and discernible roots.

Importantly, this boosts expectations for more precise assistance to patients suffering from both ailments and therapies aimed at fixing defective genes.

Nevertheless, the team highlighted that DM1 is considerably less common than autism, and not all individuals with DM1 will receive an autism diagnosis.

In DM1, the DNA strands within a gene known as DMPK undergo a phenomenon referred to as tandem repeat expansions (TREs). This causes the gene to malfunction.

For individuals with DM1, this results in symptoms such as gradual muscle weakening and uncontrolled movements.

Functional errors result in protein imbalances that impact other genes crucial for brain function.

The researchers indicated that these genetic impairments could lead to individuals with DM1 developing signs of autism such as monotonous actions, poor motor skills, and difficulties with senses.

Although autism impacts approximately 7 million Americans, only around 140,000 individuals are diagnosed with DM1.

The researchers from the University of Nevada Las Vegas (UNLV) stated that their discoveries might simplify diagnosing autism in individuals with conditions such as DM1 and could result in therapies aimed at fixing the defective genes.

Dr. Ryan Yuen, the lead researcher and a senior scientist in the Genetics & Genome Biology program at the Hospital for Sick Children in Las Vegas, stated, "Our research offers a novel approach to understanding the genetic evolution of autism."

'By pinpointing the molecular pathway responsible for this link, we can start exploring novel methods for diagnosing ASD and developing targeted treatments that reintroduce these proteins back into the genetic makeup.'

This indicates that crucial proteins removed from DNA might be reintroduced, thus fixing defective genes and stopping additional mistakes from occurring.

Meanwhile, another new study Research from Chinese scientists suggests that a non-invasive brain stimulation therapy could enhance specific symptoms of autism such as sleep disturbances and difficulties with social engagement.

The therapy, known as transcranial pulsed current stimulation (tPCS), entails delivering electrical pulses via electrodes positioned on the patient’s head.

The electrical impulses transmitted via the electrodes are believed to enhance neural activity in specific regions of the brain.

The group discovered that children aged between three and 14, who underwent 20 transcranial pulsed current stimulation (tPCS) sessions within a month, showed considerable enhancements in their sleep patterns, language skills, sensory processing, and social interactions.

Both studies coincide with recent CDC data indicating an increase in autism prevalence in the U.S., now impacting one in every 31 children. staggering increase From one in 150 in the early 2000s.

Although numerous specialists attribute the increase to improved detection methods and diagnostic tools, public health officials such as Robert F Kennedy Jr think that elements such as pesticides, food additives, and ultrasound scans might be responsible.

In the UNLV study, which was published in Nature Neuroscience In this study, scientists examined RNA within 38 different gene groups drawn from individuals both with and without autism. RNA plays an essential role as it enables cells to construct proteins and operate correctly.

The group discovered that when the DMPK gene, which is linked to DM1 repetitions, generates this toxic RNA, it attaches itself to proteins crucial for DNA creation during the process of brain development.

The 'toxic RNA' reduces the levels of proteins and hinders their ability to bind with other RNA molecules, leading to an imbalance in proteins and mistakes in adjacent genes.

Dr. Yuen stated, "TREs act akin to a sponge that soaks up crucial proteins from the genome. In the absence of this protein, various regions of the genome fail to operate correctly."

The researchers observed that both DM1, which leads to muscle weakness, and autism may result from repeated sequences in the DMPK gene.

Dr. Lukasz Sznajder, who serves as both a research leader and an assistant professor at the University of Nevada Las Vegas (UNLV), remarked: "One particular variant caught my attention; it’s associated with a seldom-encountered neuromuscular disorder."

This is how we began linking everything together. We discovered a molecular connection, or intersection, that we think lies at the heart of inducing autism-like symptoms in kids who have myotonic dystrophy.

DM1 causes weakening of muscles in the extremities, which worsens over time affecting crucial organs such as the heart and lungs. Consequently, this can result in irregular heartbeats and respiratory problems.

The symptoms usually emerge during adolescence or early adulthood, starting with weakening of the muscles around the face, neck, fingers, and ankles.

Approximately 140,000 people in America have this condition, with an expected lifespan of about 48 to 55 years.

The researchers stated that additional studies are required to establish a link between DM1 and autism. However, they intend to investigate whether these DNA anomalies also occur in other genes linked to autism.

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