Summary: New research has revealed that tiny cellular structures known as cilia may be the genetic basis of autism and congenital heart condition. Researchers discovered that cilia creation mutations in genes that cause brain and heart growth are a cause of the two conditions frequently co-occur.
The study opens the door to earlier diagnosis of dementia in neonates diagnosed with brain defects by identifying 45 genes that affect neuron development and cilia function. These findings might alter screening tactics, enabling earlier action and better outcomes for young children at risk.
Important Information
- Cilia Connection: 45 genes associated with heart disease and autism have mobile cilia, which are essential for interpersonal sensing.
- Quick Clue: Congenital heart disease, which is beginning to be recognized, may raise the risk of autism.
- Shared Gene Spotlight: Among the chromosomes identified, TAOK1 inhibits mutation in both heart and brain growth.
Origin: Development
About 1 in 100 babies worldwide are affected by autism spectrum disorders, which are difficult developmental problems. Early treatment may enable prompt treatment to enhance autism children’s development and quality of life.
Researchers have identified over 200 genes linked to autism, but it’s difficult to accurately predict the risk of dementia based on genetic information.
Congenital heart disease, which has an impact on the structure, progress, and brain function, can cause autism to coexist with it. A congenital heart disease diagnosis may help identify children who are more likely to develop dementia earlier because congenital heart disease may be quickly recognized in children.
Scientists have been trying to comprehend why the two conditions, which affect the development of the brain and the heart, are linked.
A team of scientists led by Dr. Helen Willsey from the University of California, San Francisco, USA, discovered that small hair-like buildings called cells, which are found on virtually every body, are the basis of the shared science of dementia and congenital center disease, bringing us one step closer to early identification of children at risk of dementia.
On June 24, 2025, this research is published in the journal Development.
Just because there are so many risk genes involved in both diseases, Willsey said,” Understanding how adhd and congenital heart disease cross physiologically has been challenging technically.”
Prior research had demonstrated that 361 gene mutations increased the risk of developing congenital heart disorder, dementia, or both. The researchers were curious whether genes associated with congenital heart disease that directly affect brain cells could be alleles that also raise the risk of dementia.
We examined how these chance genes play a role in both the development of the heart and the brain and how they influence disease, according to Willsey.
The majority of the experiments in this study were conducted by Nia Teerikorpi, who monitored the growth of immature people nerve cells that had been mutated to have one of the 361 essential genes in the facility. She discovered 45 genes that had an impact on the development of muscle tissue.
When the crew looked more closely, Teerikorpi and the group discovered that all 45 genes are present in small hair-like cilia that are involved in cell movement, sensation, and communication.
We recently identified the , taok1 , as a predicted hereditary heart disease risk gene, but we have not already tested whether it functions in brain development, and this protein, taok1 , was one of the reasons why it caught their attention. Therefore, seeing this protein again in this study looking at the two conditions ‘ shared science motivated us to examine it more closely.
The group altered the protein in frog eggs to examine the role of , taok1 , in the heart and brain, and therefore monitored their growth and development. They discovered that body surfaces could not effectively type cells, and they observed problems developing in the heart and brain. This suggests that the other 44 genes that have been identified may also be involved in the brain’s and heart’s growth, which may contribute to congenital heart disease and dementia.
The team is now earnestly looking at the level that genes involved in cilia overlap with those linked to autism and congenital heart disease, according to Willsey.” What we discovered is the tip of the iceberg for the crossing of dementia and congenital heart illness,” said Willsey.” Our results offer the opportunity to promote people with genes associated with both conditions for early surveillance and action.
About this news about heart disease, ASD, and genetics research
Joyce Yu as the author
Source: Development
Contact: Joyce Yu – Development
Image: The image is credited to Neuroscience News
Open access to original research
Helen Rankin Willsey and colleagues ‘” Autism and congenital heart disease are intertwined through iliary biology..” Development
Abstract
Autism and congenital heart disease are intertwined through iliary biology.
Congenital heart disease ( CHD ) and autism spectrum disorder ( ASD ) frequently co-occur, but the underlying molecular mechanisms of this comorbidity are not well understood.
Understanding which CHD variants are linked to autism could help choose the right people for early intervention given that CHD is identified as newborns.
We hypothesized that CHD genes disrupting neurogenesis are more likely to increase ASD risk because autism gene perturbations frequently dysregulate neural progenitor cell ( NPC ) biology.
In order to identify CHD genes that are disrupting NPC biology, we conducted an in-vitro pooled CRISPR interference screening and identified 45 CHD genes.
A cluster of ASD and CHD genes has ciliary biology as well, and by perturbing any of seven of them ( CEP290,  , CHD4, KMT2E, NSD1, OFD1, RFX3, RFX3, and TAOK1 ), primary cilia formation is impairing in vitro.  ,
In vivo, research into Xenopus tropicalis, TAOK1 and Xenopus tropicalis, reveals a role in motile cilia formation and heart development, which supports its identification as a CHD gene.
Our findings together highlight a number of CHD genes that may be associated with ASD and highlight the importance of cilia in common ASD and CHD biology.
