Targeting a Single Gene Shows Promise in Reversing Cognitive Challenges in 22q11.2 Deletion Syndrome
New research highlights how reducing EMC10 protein levels could restore brain function and improve cognition in models of 22q11.2 Deletion Syndrome, opening doors for targeted therapies.
Recent research presents a groundbreaking approach to tackling cognitive deficits associated with 22q11.2 Deletion Syndrome, also known as DiGeorge syndrome. This genetic disorder, affecting approximately 1 in 4,000 births, results from a missing segment of chromosome 22 and can lead to learning impairments, speech difficulties, attention issues, and physical anomalies like cleft palate. Notably, it significantly increases the risk of developing schizophrenia.
A team of scientists published their findings in the journal eLife, demonstrating that reducing the levels of a specific protein, EMC10, can restore normal cell function and improve memory in models of the syndrome. Elevated EMC10 levels are linked to the disorder, arising from disrupted microRNA activity which normally regulates gene expression. In both mouse models and human-derived neurons, lowering EMC10 levels led to enhanced dendritic growth, better calcium signaling, and normalization of gene activity crucial for brain development.
The researchers employed advanced genetic editing and antisense oligonucleotides (ASOs) to decrease EMC10 in neurons and adult mice. Strikingly, these interventions improved cognitive functions such as social memory and spatial understanding, even when administered during adulthood. The effects persisted for months, suggesting potential for effective postnatal treatment.
This pioneering work highlights EMC10 as a promising therapeutic target, offering hope for interventions that could alleviate core cognitive symptoms of 22q11.2 Deletion Syndrome well beyond early development. Future studies will focus on safety, dosing, and how these interventions might integrate with existing or future therapies to enhance quality of life for individuals affected by this condition.
Source: https://medicalxpress.com/news/2025-05-gene-reverse-cognitive-deficits-22q112.html
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