VCP gene analyses in Japanese patients with sporadic amyotrophic lateral sclerosis identify a new mutation

作者：Hirano Makito^*; Nakamura Yusaku; Saigoh Kazumasa; Sakamoto Hikaru; Ueno Shuichi; Isono Chiharu; Mitsui Yoshiyuki; Kusunoki Susumu

来源：Neurobiology of Aging, 2015, 36(3): 1604.e1.

DOI：10.1016/j.neurobiolaging.2014.10.012

• Amyotrophic lateral sclerosis
• Inclusion body myopathy
• IBM
• Frontotemporal dementia
• Paget disease of bone
• Oxidative stress

Accumulating evidence has proven that mutations in the VCP gene encoding valosin-containing protein (VCP) cause inclusion body myopathy with Paget disease of the bone and frontotemporal dementia. This gene was later found to be causative for amyotrophic lateral sclerosis (ALS), a fatal neurodegenerative disease, occurring typically in elderly persons. We thus sequenced the VCP gene in 75 Japanese patients with sporadic ALS negative for mutations in other genes causative for ALS and found a novel mutation, p.Arg487His, in 1 patient. The newly identified mutant as well as known mutants rendered neuronal cells susceptible to oxidative stress. The presence of the mutation in the Japanese population extends the geographic region for involvement of the VCP gene in sporadic ALS to East Asia.

• 出版日期2015-3