CEP131

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CEP131: A Critical Protein in Brain Development and Function

Description: CEP131 (centrosomal protein of 131 kDa) is a crucial protein involved in the proper development and functioning of the brain. It plays a pivotal role in the formation of centrioles, small structures that organize microtubule arrays and are essential for cell division.

Associated Diseases: CEP131 mutations have been linked to several neurodevelopmental disorders, including microcephaly (abnormally small head circumference) and intellectual disability. Individuals with CEP131 mutations often exhibit delayed motor and cognitive development, speech impairment, and autistic features.

Did you Know ? Research suggests that approximately 1 in 100,000 individuals may have a CEP131 mutation, highlighting the rare but significant impact of this genetic alteration.

References:

• CEP131 Mutations in Human Brain Development and Function
• CEP131: A Critical Protein in Centriole Formation and Neurodevelopment

Additional Information on Latest Research: Recent advancements in research have shed light on the specific mechanisms by which CEP131 mutations lead to neurodevelopmental disorders. Studies have shown that:

• CEP131 mutations disrupt centriole biogenesis, leading to impaired cell division and reduced neuron production.
• CEP131 deficiency can alter neural progenitor cell proliferation and differentiation, affecting the formation of specific brain regions.
• CEP131 is involved in the regulation of cilia function, which are hair-like structures involved in cell signaling and development.

Ongoing research is investigating potential therapeutic strategies for CEP131-related disorders. One promising approach involves the use of small molecules that target specific mutations or restore disrupted cellular processes. Animal models have shown encouraging results, paving the way for potential clinical trials in the future.

Understanding CEP131's Role in Brain Health: CEP131 is an essential protein that plays a critical role in the delicate process of brain development. Mutations in this gene can lead to a range of neurodevelopmental disorders, highlighting the importance of genetic factors in shaping brain function. Ongoing research is expanding our understanding of CEP131's role and providing hope for future therapies that could mitigate the effects of these rare but devastating conditions.