Neurological Disease & Epilepsy

Understanding the role of eEF1A in disease.

Translation elongation factor eEF1A, which carries out a pivotal role in protein synthesis, is unusual in that it is found in two different forms in the human body. In the majority of tissue it is present as eEF1A1, but in muscle (skeletal and cardiac) and neurons eEF1A1 is replaced by eEF1A2. The question of why this very specific change from one eEF1A form to another occurs, and the functional consequences of the switch, is of fundamental biological importance. eEF1A2 has a vital role in a whole range of diseases, from motor neuron degeneration and muscle atrophy (when it is absent) to cancer (when it is inappropriately expressed). More recently, de novo heterozygous missense mutations have been discovered in eEF1A2 in individuals with epilepsy, autism and often severe intellectual disability (http://eef1a2epilepsy.wordpress.com/).