A groundbreaking study by scientists at Kobe University in Japan has pinpointed a common genetic error related to autism, igniting optimism for potential new targeted therapies. While it has been recognized that autism frequently runs in families, the specific mechanisms through which inherited DNA alterations contribute to the condition have been elusive.
The research indicates that many mutations linked to autism disrupt the brain’s natural cleansing system, essential for eliminating waste and damaged materials. When this internal clean-up process falters, as suggested in this study, waste accumulates within neurons, impairing their ability to transmit signals effectively.
This malfunction could help clarify several core characteristics of autism, such as challenges in learning, language comprehension, and social interaction. Published in the journal Cell Genomics, the study emphasized understanding the functions of various high-risk genetic variants within the brain.
Historically, it has been established that certain genetic mutations are prevalent among individuals with autism; however, scientists lacked a standardized method to investigate these mutations’ effects in laboratory settings. To address this gap, the Kobe research team developed a collection of 63 genetically identical cell lines, enabling consistent experimental conditions. These cell lines were derived from mouse embryonic stem cells, which possess the ability to differentiate into any tissue type, including brain cells. Importantly, no human embryos were utilized in the process.
Using CRISPR gene-editing technology, the researchers introduced mutations associated with autism spectrum conditions (ASC) into these cell lines. This innovative approach allowed for the creation of what some scientists refer to as ‘autism in a dish.’ The modified cells enabled the team to cultivate various brain tissue types and even produce adult mice with the same genetic mutations, facilitating extensive study of how these alterations influence brain structure and behavior over time.
A significant finding emerged: many of the identified mutations resulted in a dysfunction of the brain’s waste management system. Neurons, responsible for carrying electrical signals that govern thought, emotion, and behavior, struggled to eliminate damaged internal components. As articulated in the study, ‘a lack of quality control of these proteins may be a causal factor of neuronal defects.’
Neurons continuously generate components necessary for efficient communication, but if old or malfunctioning parts cannot be cleared away, the system becomes overburdened, leading to disruption within the neural networks critical for learning and social development.
The implications of this research may reach beyond autism; the same genetic mutations are also linked to other mental health disorders, including schizophrenia and bipolar disorder. 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.’
With a more profound understanding of the genetic mutations at play, scientists anticipate identifying new drug targets tailored to an individual’s unique genetic makeup. Although clinical applications are likely years away, this breakthrough represents a pivotal shift in autism research—from merely identifying risk genes to unraveling the biological processes potentially underpinning the condition.
This development coincides with rising autism diagnoses, which surged by 787 percent in the United Kingdom between 1998 and 2019, according to a 2021 study. Recent NHS data revealed that over 200,000 individuals in England are currently awaiting an autism assessment, a significant increase from 2021.
Notable figures with autism spectrum conditions include environmental activist Greta Thunberg, 22, and billionaire entrepreneur Elon Musk, 53, founder of Tesla and owner of X, formerly known as Twitter. As autism manifests differently across individuals, some within the community advocate for understanding and accommodation of the condition, viewing it as an alternative way of being rather than an ailment that requires a ‘cure.’
Previous research has examined genetic connections to autism, such as findings earlier this year that linked myotonic dystrophy type 1 (DM1) with autism, revealing individuals with this lesser-known genetic disorder were 14 times more likely to develop autism. Additionally, studies have explored environmental factors as potential contributors; for example, research from last year highlighted a correlation between higher levels of the plastic additive bisphenol A (BPA) in pregnant women and an increased risk of autism in boys.
BPA, commonly found in a range of products, was associated with tripling the chances of young boys showing autism symptoms by age two and significantly heightening the likelihood of diagnosis by age 11 compared to those born to mothers with lower BPA exposure during pregnancy. The chemical, primarily used to harden plastics, has drawn attention for its potential hormonal and sexual disruption effects in various species.