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Two novel VCP missense variants identified in Japanese patients with multisystem proteinopathy

Michio Inoue1,2, Aritoshi Iida3, Shinichiro Hayashi1

  • 11Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, 187-8551 Japan.

Human Genome Variation
|June 15, 2018
PubMed

Insights

Valosin-containing protein (VCP) gene mutations cause multisystem proteinopathy (MSP). This study identifies two novel VCP variants in MSP patients, expanding the understanding of this complex genetic disorder.

Area of Science:

  • Genetics
  • Molecular Biology
  • Neurology

Background:

  • Valosin-containing protein (VCP) gene mutations are linked to inclusion body myopathy with Paget's disease of bone and frontotemporal dementia (IBMPFD), amyotrophic lateral sclerosis, and Charcot-Marie-Tooth disease.
  • A new unifying term, multisystem proteinopathy (MSP), is proposed for these VCP-associated conditions.
  • VCP protein plays a crucial role in the ubiquitin proteasome system, essential for protein degradation.

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