VCP

Many variants (also known as mutations) in the VCP gene have been identified in people who have inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD). This rare disease causes muscle weakness (myopathy) and can also include a painful bone condition called Paget disease of bone and a brain condition called frontotemporal dementia that worsens over time.

The variants associated with IBMPFD each change a single protein building block (amino acid) in valosin-containing protein. Changes in the structure of this enzyme impair its ability to break down other proteins as part of the ubiquitin-proteasome system. As a result, excess and abnormal proteins build up in muscle, bone, and brain cells. The proteins form clumps (aggregates) that interfere with the normal functions of these cells. It remains unclear how damage to muscle, bone, and brain cells leads to the specific features of IBMPFD.

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