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A groundbreaking study conducted by researchers at Tel Aviv University has revealed that a rare genetic disorder affects the brains of males and females in distinct ways. The research, led by Prof. Illana Gozes, focused on mutations in the ADNP protein, a crucial element in brain development and aging, and its impact on neurogenesis—the process of forming new brain cells from stem cells.
Sex-Based Differences in Brain Function
The study found that in males, the defective ADNP protein disrupts the unfolded protein response, a mechanism responsible for maintaining protein structure. This impairment directly affects neurogenesis, leading to cognitive deficits. In females, however, the mutation hinders mitochondrial function, preventing the brain from receiving sufficient energy for normal operations. Both disruptions contribute to memory loss and learning difficulties and are linked to neurodegenerative diseases such as Alzheimer’s.
Key Research Findings
The team, including Dr. Gidon Karmon and doctoral student Guy Shapira, conducted their research using genetically engineered mouse models. They compared mice with different forms of ADNP mutations to a control group of healthy mice. Through advanced bioinformatics analysis and RNA sequencing, they confirmed that ADNP mutations cause sex-specific brain impairments.
Prof. Gozes emphasized the importance of these findings, stating, “The ADNP gene is a master regulator of brain development and function. Our study highlights the profound differences in how neurogenesis is affected in males and females, shedding light on potential sex-specific treatments for neurodegenerative disorders.”
Potential Treatment with Experimental Drug
As part of the study, researchers tested the experimental drug Davunetide, which is derived from a fragment of the ADNP protein. The results were promising, showing significant recovery in neurogenesis, particularly in mice with only half the normal levels of ADNP.
“We hope to begin clinical trials for children with ADNP syndrome soon,” said Prof. Gozes. “Moreover, our previous research suggests that Davunetide may also benefit Alzheimer’s patients and individuals suffering from progressive supranuclear palsy (PSP), a condition with similarities to Alzheimer’s.”
Future Implications
The findings, published in the journal Molecular Psychiatry, pave the way for new therapeutic strategies targeting neurodevelopmental and neurodegenerative disorders. As the research progresses, scientists hope to refine treatments that address the unique needs of male and female patients with ADNP syndrome and other related conditions.
Disclaimer: This article is based on scientific research and is intended for informational purposes only. It does not constitute medical advice. Individuals should consult healthcare professionals for diagnosis and treatment options.
