Diseases include ALS and a form of dementia called IBMPFD

Single mutations in one gene rarely cause different diseases. New research, published in the journal Neuron, gives insight into how single mutations in the VCP gene cause a range of neurological conditions including the motor neuron disease Amyotrophic Lateral Sclerosis (ALS) and a form of dementia called Inclusion Body Myopathy, Paget’s Disease of the Bone and Frontotemporal Dementia (IBMPFD) 

This study shows that these mutations disrupt energy production in cells shedding new light on the role of VCP in these multiple disorders.  

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http://www.eurekalert.org/pub_releases/2013-03/ucl-miv031313.php

14 Μαρτίου, 2013