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Scientists are certain they have found the cause of autism, the historic discovery paves the way for drug treatment

2025-06-18 11:13:57Lifestyle SHKRUAR NGA REDAKSIA VOX

Scientists are certain they have found the cause of autism, the historic

A landmark discovery by scientists has uncovered a common genetic defect linked to autism, raising hopes for a new generation of treatments. While it has long been understood that autism often runs in families, the specific way in which inherited changes in DNA lead to the condition has remained unclear.

Now, researchers at Kobe University in Japan have discovered that many of the mutations associated with autism appear to disrupt the brain's natural 'maintenance' system, the internal process that clears out "waste" and "damaged material," allowing brain cells to function properly, writes Vox News. 

When this cleaning system fails, as the study suggests, in many cases of autism, "waste" begins to accumulate inside nerve cells, impairing their ability to send and receive signals.

This division may help explain some of the key characteristics of autism, including difficulties with learning, speech, and social interaction.

The research, published in Cell Genomics, focused on identifying what different high-risk genetic variants actually do within the brain.

Scientists have known for years that certain genetic mutations are more common in people with autism, but until now, there was no standardized way to study the effects of these mutations in the lab.

To solve this, Kobe's team created a library of 63 specially engineered cell lines, groups of cells grown in the lab that are genetically identical, allowing researchers to conduct robust experiments.

Each line carried one of the genetic mutations most strongly associated with autism spectrum conditions (ASC). These cells were created using mouse embryonic stem cells - taken from early-stage mouse embryos - which have the unique ability to develop into any type of tissue in the body, including brain cells. No human embryos were used.

To introduce the mutations, the scientists used CRISPR, a gene-editing technology that allows precise changes to DNA. This enabled the team to effectively model autism in the lab - creating what some researchers describe as 'autism in a dish'.

 From these modified cells, the team was able to grow different types of brain tissue—and even generate adult mice with the same mutations—giving them a great opportunity to study how genetic changes affect both the structure and behavior of the brain over time. What they found was surprising. In many of the mutations, a common problem emerged: the brain’s waste disposal system wasn’t working properly. Brain cells—specifically neurons, which carry electrical signals and control thought, emotion, and behavior—were struggling to get rid of their faulty internal components.

As the study puts it, 'lack of quality control of these proteins may be a causative factor in neuronal defects'.

The authors note that this is 'particularly interesting since local protein production is a unique feature in neurons'.

Simply put, neurons constantly produce new components to help them send messages, writes Vox News.

But if they can't clear out old or broken parts, the system becomes clogged and begins to malfunction - potentially disrupting brain networks that support communication, learning and social development.

The implications may go beyond autism.

Many of the same genetic mutations are also found in people with other mental health illnesses, such as schizophrenia and bipolar disorder.

As the authors note: 'Interestingly, the genetic variants we studied are also involved in other neuropsychiatric disorders such as schizophrenia and bipolar disorder.

'So this library could be useful for studying other conditions as well.'

Researchers hope that by better understanding what these mutations do, scientists will be able to identify new drugs and, ultimately, develop treatments tailored to a person's unique genetic profile.

While any clinical application is still years away, the discovery marks a turning point in autism research - moving beyond simply discovering risk genes to uncovering the biological chain of events that may cause the condition in the first place.

This comes after the rapid rise in the number of people diagnosed with autism - with a 787 percent increase in the number of diagnoses in the UK between 1998 and 2019 reported in a 2021 study.

Last month NHS data showed that more than 200,000 people - triple that in 2021 - are waiting for an autism assessment in England.

Famous figures with ASC include environmental activist Greta Thunberg, 22, and billionaire entrepreneur Elon Musk, 53, founder of Tesla and owner of X (formerly Twitter).

Since this condition affects people in so many different ways, some autistic individuals do not see it as a disease that requires a 'cure'.

Instead, they see it as a change - one that needs to be understood and adapted to, rather than treated or fixed.

The Kobe University research is not the first to examine genetic links to the syndrome to provide answers.

Earlier this year, experts discovered that some cases of autism may be caused by the genetic condition myotonic dystrophy type 1 (DM1).

It was found that those with this genetic condition were 14 times more likely to develop autism.

Other studies have suggested that environmental factors may be a possible cause of autism.

Last year, research found that a common plastic additive found in everything from pacifiers to food was linked to an increased risk of autism in boys.

The study found that higher levels of bisphenol A (BPA) in a pregnant mother's urine tripled the chances of a young boy developing symptoms of autism by the age of two.

The same boys were six times more likely to be diagnosed with autism by the age of 11 - compared to those whose mothers had lower levels of BPA during pregnancy.

The chemical BPA is intended to harden plastics and prevent metals from rusting, among other uses.

It has also been called a 'gender-altering' chemical due to its apparent role in inducing hormonal and sexual disorders in humans, fish and other species./ Daily Mail


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