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Showing posts with the label MAPT mutations

The MAPT Gene and Alzheimer’s Disease

The MAPT gene, short for Microtubule-Associated Protein Tau , plays a pivotal role in maintaining the health and functionality of neurons. By providing instructions for producing the tau protein , MAPT ensures the stability of microtubules—structures essential for maintaining cell shape and facilitating nutrient transport within nerve cells. However, when the MAPT gene malfunctions, it can lead to serious neurodegenerative diseases, including Alzheimer’s disease . Key Points About the MAPT Gene 1. Location The MAPT gene is located on chromosome 17 , an area known to house several genes involved in neurological function and disease. 2. Tau Protein Function In neurons, tau binds to microtubules and helps regulate their stability, ensuring proper cell structure and function. Tau's role is vital for axonal transport , the process through which neurons communicate and transport essential nutrients and signaling molecules. This transport system is crucial for maintaining neuronal healt...