Experts Pinpoint Biological Cause Of Autism, Paving Way For Targeted Drug Therapies
Scientists have made a significant finding that could lead to a new generation of tailored treatments: they have discovered a common genetic flaw associated with autism.
Although it has long been known that autism frequently runs in families, it is still unknown how specific genetic alterations cause the disorder.
Researchers at Kobe University in Japan have now discovered that a large number of the mutations linked to autism seem to interfere with the brain’s natural “maintenance” system, which is the internal mechanism that removes waste and damaged material so that brain cells may continue to operate normally.
Waste starts to accumulate inside nerve cells, impairing their capacity to send and receive signals, when this cleanup system malfunctions, as the study indicates it does in many cases of autism.Source: Pexels
Some of the fundamental characteristics of autism, such as challenges with language, learning, and social interaction, may be better understood in light of this breakdown.
The goal of the study, which was published in Cell Genomics, was to determine the true functions of certain high-risk genetic variations within the brain.
Researchers have long known that some genetic abnormalities are more prevalent among autistic individuals, but up until now, there was no systematic method for examining the consequences of those mutations in a laboratory setting.
The Kobe team developed a library of 63 specifically engineered cell lines—groups of genetically identical cells cultivated in the lab—to address this issue and enable researchers to carry out reliable studies.
One of the genetic variants most strongly linked to autism spectrum disorders (ASC) was present in each line.
Mouse embryonic stem cells, which are extracted from early-stage mouse embryos and have the unusual capacity to differentiate into any type of tissue in the body, including brain cells, were used to make these cells.
There was no utilisation of human embryos.
The researchers employed CRISPR, a gene-editing technique that enables precise modifications to DNA, to introduce the alterations.
It made it possible for the group to successfully simulate autism in the laboratory, producing what some researchers refer to as “autism in a dish.”
The team’s ability to cultivate different kinds of brain tissue from these altered cells—and even produce adult mice with the same mutations—provided them with a potent tool for researching how genetic alterations impact brain structure and behaviour throughout time.
They discovered something startling. A common issue across many of the mutations was that the brain’s waste-disposal system wasn’t functioning correctly.
Neurones, which transmit electrical signals and regulate thought, emotion, and behaviour, were among the brain cells that were having difficulty eliminating malfunctioning internal components.
“A lack of quality control of these proteins may be a causal factor of neuronal defects,” the report states.
This is “particularly interesting since the local production of proteins is a unique feature in neurones,” according to the authors.
To put it simply, neurones are always creating new parts to aid in message transmission.
However, the system becomes clogged and begins to fail if they are unable to remove outdated or damaged components, which could potentially interfere with the brain networks that promote social development, learning, and communication.
The consequences might extend beyond autism.
People with bipolar disorder and schizophrenia, among other mental illnesses, also have many of the same genetic abnormalities.
As the authors note: “Interestingly, the genetic variants we studied are also implicated in other neuropsychiatric disorders such as schizophrenia and bipolar disorder. “
“So, this library may be useful for studying other conditions as well.”
By learning more about what these mutations do, the researchers aim to find novel drug targets and eventually create treatments that are specific to each patient’s genetic profile.
The finding represents a paradigm shift in autism research, going beyond identifying risk genes to identifying the biochemical cascade of events that may initially cause the disorder, even though any therapeutic use is still probably years away.
It comes as autism rates skyrocketed, with a 2021 study revealing a 787 percent increase in diagnoses in the UK between 1998 and 2019.
More than 200,000 people in England are waiting for an autism assessment, which is three times as many as there were in 2021, according to NHS figures released last month.
Greta Thunberg, a 22-year-old environmental activist, and Elon Musk, a 53-year-old billionaire entrepreneur who founded Tesla and owns X (previously Twitter), are well-known individuals with ASC.
Some autistic persons may not see autism as a disease that needs a “cure” because it affects people in a variety of ways.
Rather than treating or fixing it, they view it as a difference that should be recognised and accommodated.
The study from Kobe University is not the first to investigate genetic connections to the illness in order to offer solutions.
Experts discovered earlier this year that myotonic dystrophy type 1 (DM1), a genetic disorder, may be the cause of some autism cases.
Autism was discovered to be 14 times more likely to develop in those with the little-known genetic disorder.
According to other research, autism may be caused by environmental causes.
According to studies last year, a common plastic ingredient that can be found in anything from metal foods to pacifiers has been connected to a higher risk of autism in males.
Higher concentrations of the chemical bisphenol A (BPA) in a pregnant woman’s urine were shown to more than treble the likelihood that a young boy would exhibit autistic symptoms by the time he was two years old.
Compared to boys whose mothers had lower levels of BPA during pregnancy, the same boys had a six-fold higher chance of receiving an autism diagnosis by the time they were eleven years old.
Among its many applications, the chemical BPA is meant to harden polymers and stop metals from rusting.
Because of its suspected function in causing hormonal and sexual changes in fish, humans, and other species, it has also been nicknamed a “gender-bending” chemical.