Valosin Containing Protein Disease, VCP Disease, Multisystem Proteinopathy, Inclusion Body Myopathy, Paget's Disease of Bone, IBMPFD, Frontotemporal Dementia

Overview

Type of disease: Rare Condition or Disease

VCP Disease is a rare genetic disease, which can affect a patient’s muscles, bones and brain. It is an autosomal dominant neuromuscular disease. The exact number of patients currently diagnosed with this disease is unknown worldwide. Leading researchers believe there is a significant number of patients with the VCP mutation being misdiagnosed as Limb-girdle muscular dystrophy, myositis or other myopathies.

​VCP Disease is caused by a mutation in a gene called Valosin Containing Protein (VCP or p97). The VCP gene provides instructions for producing the VCP enzyme. The VCP gene encodes valosin-containing protein, a ubiquitously expressed multifunctional protein that is a member of the AAA+ (ATPase associated with various activities) protein family. It has been implicated in multiple cellular functions ranging from organelle biogenesis to ubiquitin-dependent protein degradation. The VCP enzyme is involved in a wide variety of important cellular activities such as cell division and mitochondrial function. One of VCP’s most critical jobs is to help break down proteins that are abnormal or no longer needed. When the VCP gene is mutated, these cellular functions are disrupted leading to several possible symptoms and disorders.

VCP Disease primarily manifests as IBMPFD, which identifies the three primary disorders originally associated with the disease: Inclusion Body Myopathy, Paget’s Disease of Bone, and Frontotemporal Dementia. Researchers also categorize this disease as Multisystem Proteinopathy (MSP1) because it is a protein disorder that affects multiple body systems. A person with VCP Disea
A genetic connection has now been established between VCP Disease and more common disorders such as Amyotrophic lateral sclerosis (ALS), Parkinsonism Disease, hereditary spastic paraplegia, Charcot-Marie-Tooth disease, cardiomyopathy, cataracts, and neuropathy.

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