Scientists have found a highly dangerous gene that distorts the skull and can lead to madness.

A recent study by scientists has linked mutations in the Tbx1 gene, traditionally associated with craniofacial developmental disorders, to schizophrenia, a complex mental illness. This finding may provide new insights for science in treating the condition and encourage doctors to pay closer attention to cranial deformities in individuals as a potential signal for future disease development, reports ScienceAlert.

Researchers led by neurobiologist Stanislav Zakharenco from St. Jude Children's Research Hospital discovered this link, suggesting that disruptions occurring in non-neuronal tissues may indirectly affect brain development and functioning. This challenges the common assumption that brain disorders primarily arise from anomalies within the brain tissue itself.

The study focused on the Tbx1 gene, known for its role in craniofacial development. When one copy of this gene is removed in mice, it results in abnormal skull formation and a significant reduction in certain cerebellar lobes, impacting motor learning. Zakharenco noted that Tbx1 is predominantly expressed in bones, cartilage, and the vascular system, rather than in the brain, suggesting that its influence on brain structure occurs indirectly through skull formation. To validate their findings, the researchers conducted MRI scans on individuals with 22q deletion syndrome—a genetic condition characterized by the absence of a segment of chromosome 22 that includes Tbx1.

Up to 30% of individuals with this syndrome develop schizophrenia, a stark contrast to the 1% prevalence in the general population. The scans revealed structural anomalies in the cerebellum that corresponded to those observed in mice, highlighting a potential link between Tbx1 and schizophrenia. Previous studies have indicated that disruptions in auditory signal processing pathways, especially between the thalamus and auditory cortex, are associated with schizophrenia symptoms, such as hallucinations. The parafloccular lobe, involved in auditory signal processing, was significantly underdeveloped in individuals with Tbx1 mutations. The researchers propose that this structural deficit may contribute to the auditory hallucinations characteristic of the disorder, although it is likely that the emergence of these symptoms requires the interaction of other factors.

The study, published in the journal Nature Communications, effectively describes the multifactorial nature of schizophrenia, encompassing genetic, biological, and environmental factors. The Tbx1 mutation opens new avenues for understanding how non-brain tissues influence neurodevelopment and mental disorders, according to the authors. However, as Zakharenco emphasizes, further research is needed to trace the precise chain of events from genetic mutation to symptom manifestation.

The significance of the Tbx1 research findings is further enhanced by the fact that its rare variants have also been linked to autism spectrum disorders, potentially allowing scientists to explore its broader impact on neurodevelopmental complications. The relationship between physical structures, such as the skull, and cognitive disorders indicates how interconnected human biology can be in the most unexpected ways, paving the way for new approaches to the treatment and prevention of these conditions.

Important! This article is based on the latest scientific and medical research and does not contradict them. The text is for informational purposes only and does not contain medical advice. Always consult a doctor for a diagnosis.