For decades, Cold Spring Harbor Laboratory scientists and collaborators have invested millions of dollars into deciphering the genetic causes of autism spectrum disorder (ASD). Their efforts have produced useful insights for diagnosticians, therapists, and educators, helping to change the way people think about this common neurodevelopmental disorder. Now, they’ve taken their work another big step further, once again overturning popular assumptions about autism and its genetic origins.
Newswise — CSHL scientists have reversed the narrative on autism spectrum disorder (ASD) genetics.
Researchers believed that siblings affected by ASD inherited a greater portion of their mother's genetic material compared to their father's. However, the recent findings from CSHL's Associate Professor Ivan Iossifov and Professor Michael Wigler challenge this assumption, suggesting that, in numerous instances, it is the father who potentially exerts a more significant genetic influence.
Autism spectrum disorders encompass various neurological and developmental conditions that can impact an individual's communication, socialization, learning, and behavior. Additionally, ASD may be characterized by repetitive behaviors and limited interests. Approximately one in 36 children in the United States are affected by this condition.
"Some children diagnosed with autism are high functioning," Iossifov explains. "They lead fully productive lives, despite experiencing minor challenges in social interactions, much like the rest of us. However, there are also children with autism who struggle to develop speech and face significant difficulties throughout their lives."
In the past twenty years, researchers at CSHL have spearheaded a multimillion-dollar endeavor to unravel the genetic underpinnings of autism. Through their efforts, they have identified numerous genes that, when altered, could potentially contribute to the development of autism spectrum disorder (ASD) in individuals from birth. However, despite these discoveries, there remained unexplained cases of ASD. Consequently, Iossifov and Wigler embarked on a mission to uncover the elusive sources responsible for these cases.
The team of researchers analyzed the genetic profiles of over 6,000 families who volunteered for the study. Their investigation yielded intriguing results: in families where multiple children were diagnosed with ASD, the siblings exhibited a higher degree of shared genetic material from their father. On the other hand, in families where only one child had ASD, the siblings showed a lower level of shared genetic material from their father. This discovery not only sheds light on a potential new factor contributing to ASD but also raises an intriguing question: could other disorders follow similar genetic patterns?
The precise mechanism through which the father's genome influences children with ASD remains uncertain. However, Iossifov has put forward a couple of intriguing hypotheses. One possibility is that certain fathers carry protective genetic mutations that do not get transmitted to their offspring. Alternatively, fathers may pass on mutations that activate the mother's immune system, leading to an immune response against the developing embryo. Both theories present hopeful prospects for parents of children with ASD and other neurological conditions, such as schizophrenia.
Iossifov expresses enthusiasm for the future research endeavors, stating, "Our future research is exciting." Should one or both of these theories prove to be valid, it could potentially pave the way for diverse treatment strategies. Such advancements could have a significant impact on numerous families affected by ASD and related conditions in the future.
Furthermore, this research provides valuable tools and resources for educators and therapists working with individuals on the autism spectrum. It has the potential to enable earlier diagnoses, leading to timely interventions and support. Moreover, it contributes to a deeper comprehension of autism, enhancing the overall understanding of the condition and informing the development of more effective educational and therapeutic approaches.
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