Which condition is associated with the ASPA gene?

The condition associated with the ASPA gene is Canavan Disease. This genetic disorder is caused by mutations in the ASPA gene, which provides instructions for making an enzyme called aspartoacylase. This enzyme is crucial for the breakdown of N-acetylaspartate, a compound that accumulates in the brain in individuals with Canavan Disease. The buildup of this compound leads to developmental delays, neurological impairment, and occurs due to the disruption of myelin formation in the brain.

Canavan Disease is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to manifest the disease. Understanding the specific genetic basis of Canavan Disease emphasizes the critical role of the ASPA gene in normal neurological function and development.