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New Insights into Autism-Heart Defect Connection Pave Way for Early Autism Diagnosis
- Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by social communication difficulties and repetitive behaviors, affecting one in every hundred children globally.
- Early diagnosis of autism is vital for improved patient outcomes, yet challenging due to its complex genetic architecture involving numerous contributing genes.
- Recent studies linking ASD with congenital heart disease (CHD) suggest a potential biomarker at birth for identifying children at risk of autism.
- Research by Dr. Helen Willsey's team reveals a shared biological foundation between autism and CHD, focusing on ciliary dysfunction.
- Genetic interplay investigations identified 361 genes linked to autism and CHD, with 45 genes affecting neuronal growth and morphology through cilia.
- The gene taok1 emerged as crucial, regulating developmental pathways in both autism and congenital heart malformations.
- Disruptions in cilia formation due to taok1 manipulation led to defects in cardiac and neural tissues, highlighting its significance.
- Defects in ciliary biology may serve as a fundamental bridge connecting various neurodevelopmental and congenital disorders.
- The study's implications suggest ciliary dysfunction as a key mechanism underlying ASD and CHD, offering potential diagnostic and therapeutic avenues.
- This groundbreaking research challenges the view of autism and CHD as separate entities, emphasizing their intertwined pathogenesis at a cellular level.
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