Mutações na proteína VAPB e sua relação com a morte de neurônios motores na esclorese lateral amiotrófica

Abstract

ALS is a chronic, progressive, neurodegenerative disease caused by the death of motor neurons. These patients may take up to 12 months to diagnose, and they die within 3 to 5 years of symptoms. There is, however, great variability in clinical status, with some patients dying less than 1 year from the onset of the first signs, and others surviving decades. The identification of ALS8, caused by missense mutation in the VAPB (Protein Associated Vesicle) gene, has contributed significantly to the knowledge of the molecular mechanism behind ALS. Recent literature has shown that decreased VAPB levels are present in cellular models of the disease, as well as in patient samples, suggesting that this protein would play a central role in the disease and a significant contribution to motor neuron death.