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Disease models

Models for pathogenic mutations in vasolin containing protein (VCP)

Fruit flies and human cells with pathogenic mutations in VCP could be useful as models to study diseases associated with such mutations, such as frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). In patient fibroblasts or human CNS cell lines, mutant VCP decreased mitochondrial membrane potential and increased mitochondrial respiration compared with wild-type VCP. Fruit flies with pathogenic mutations in the VCP ortholog showed defects in neuromuscular junction morphology, muscle degeneration and other myopathy. Next steps could include using the models to evaluate therapeutic candidates.

SciBX 6(12); doi:10.1038/scibx.2013.297
Published online March 28, 2013

Patent and licensing status unavailable for both studies

Bartolome, F. et al. Neuron; published online March 14, 2013;
Contact: Helene Plun-Favreau, UCL Institute of Neurology, London, U.K.
Contact: Andrey Y. Abramov, same affiliation as above

Kim, N.C. et al. Neuron; published online March 14, 2013;
Contact: J. Paul Taylor, St. Jude Children's Research Hospital, Memphis, Tenn.