Mutations in the gene for an enzyme called valosin-containing protein (VCP) are known to directly cause a disease called Inclusion Body Myopathy associated with Paget’s disease of bone and frontotemporal dementia.
More recently, mutations in VCP have been associated with sporadic ALS in some individuals. To examine this association in more detail, the laboratory of Dr. John Weiss of University of California, Irvine examined mice with mutated VCP for indications of ALS-like pathology and published their findings in the journal Cell Death &Disease . These mice demonstrated muscle, bone and brain abnormalities characteristic of human ALS including motor neuron degeneration, aggregates with TDP-43, and altered mitochondria and astrocytes. While they do not develop an obvious motor disorder, sensitive muscle tests reveal denervation due to motor neuron loss. This work indicates that VCP is an important factor in motor neuron health and provides another target for establishing connections with more prominent ALS-causing proteins with the hope of ultimately understanding how to prevent motor neuron degeneration.
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Source: ALS Canada