Mutations in VCP gene implicated in a number of neurodegenerative diseases

New research, published in Neuron , gives insight into how single mutations in the VCP gene cause a range of neurological conditions including a form of dementia called Inclusion Body Myopathy, Paget's Disease of the Bone and Frontotemporal Dementia (IBMPFD), and the motor neuron disease Amyotrophic Lateral Sclerosis (ALS). Single mutations in one gene rarely cause such different diseases. This study shows that these mutations disrupt energy production in cells shedding new light on the role of VCP in these multiple disorders. In healthy cells VCP helps remove damaged mitochondria, the energy-producing engines of cells. The mutant protein can't do this and as a result, the dysfunctional mitochondria build up. The new study led by Fernando Bartolome, Helene Plun-Favreau and Andrey Abramov of the UCL Institute of Neurology, found that mitochondria are damaged in cells from patients with mutant VCP. Mitochondria generate a cell's energy, and the study found these damaged mitochondria are less efficient, burning more nutrients but producing less energy.