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Article

Identification of CHCHD2 mutations in patients with Alzheimer's disease, amyotrophic lateral sclerosis and frontotemporal dementia in China

  • Authors:
    • Xixi Liu
    • Bin Jiao
    • Weiwei Zhang
    • Tingting Xiao
    • Lihua Hou
    • Chuzheng Pan
    • Beisha Tang
    • Lu Shen
  • View Affiliations / Copyright

    Affiliations: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, P.R. China
  • Pages: 461-466
    |
    Published online on: May 3, 2018
       https://doi.org/10.3892/mmr.2018.8962
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Abstract

Recently, the coiled‑coil‑helix‑coiled‑coil‑helix domain 2 (CHCHD2) gene was identified as a possible causative gene for Parkinson's disease (PD). Three other neurodegenerative diseases, Alzheimer's disease (AD), amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), share significant overlaps with PD in clinical phenotypes, pathological features and genetic heredities, and it is still unclear whether CHCHD2 variants could explain these three diseases. The present study screened all exons of the CHCHD2 gene in a total of 780 patients (511 AD, 181 ALS and 88 FTD) and 500 healthy controls from the Chinese Han population. Two missense variants, 5C>T (Pro2Leu) and 238A>G (Ile80Val), were identified in five unrelated patients with AD while no mutations were observed in patients with ALS or FTD. These mutations have been reported as low‑frequency variants in the ExAC database with frequencies of 0.0075 and 0.000025. Pro2 Leu, however, was also detected in controls and was confirmed to have no significant association with the risk for AD; Ile80Val was not detected in any normal controls, suggesting that the CHCHD2 gene may be associated with AD in the Chinese Han population.
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Copy and paste a formatted citation
Spandidos Publications style
Liu X, Jiao B, Zhang W, Xiao T, Hou L, Pan C, Tang B and Shen L: Identification of CHCHD2 mutations in patients with Alzheimer's disease, amyotrophic lateral sclerosis and frontotemporal dementia in China. Mol Med Rep 18: 461-466, 2018.
APA
Liu, X., Jiao, B., Zhang, W., Xiao, T., Hou, L., Pan, C. ... Shen, L. (2018). Identification of CHCHD2 mutations in patients with Alzheimer's disease, amyotrophic lateral sclerosis and frontotemporal dementia in China. Molecular Medicine Reports, 18, 461-466. https://doi.org/10.3892/mmr.2018.8962
MLA
Liu, X., Jiao, B., Zhang, W., Xiao, T., Hou, L., Pan, C., Tang, B., Shen, L."Identification of CHCHD2 mutations in patients with Alzheimer's disease, amyotrophic lateral sclerosis and frontotemporal dementia in China". Molecular Medicine Reports 18.1 (2018): 461-466.
Chicago
Liu, X., Jiao, B., Zhang, W., Xiao, T., Hou, L., Pan, C., Tang, B., Shen, L."Identification of CHCHD2 mutations in patients with Alzheimer's disease, amyotrophic lateral sclerosis and frontotemporal dementia in China". Molecular Medicine Reports 18, no. 1 (2018): 461-466. https://doi.org/10.3892/mmr.2018.8962
Copy and paste a formatted citation
x
Spandidos Publications style
Liu X, Jiao B, Zhang W, Xiao T, Hou L, Pan C, Tang B and Shen L: Identification of CHCHD2 mutations in patients with Alzheimer's disease, amyotrophic lateral sclerosis and frontotemporal dementia in China. Mol Med Rep 18: 461-466, 2018.
APA
Liu, X., Jiao, B., Zhang, W., Xiao, T., Hou, L., Pan, C. ... Shen, L. (2018). Identification of CHCHD2 mutations in patients with Alzheimer's disease, amyotrophic lateral sclerosis and frontotemporal dementia in China. Molecular Medicine Reports, 18, 461-466. https://doi.org/10.3892/mmr.2018.8962
MLA
Liu, X., Jiao, B., Zhang, W., Xiao, T., Hou, L., Pan, C., Tang, B., Shen, L."Identification of CHCHD2 mutations in patients with Alzheimer's disease, amyotrophic lateral sclerosis and frontotemporal dementia in China". Molecular Medicine Reports 18.1 (2018): 461-466.
Chicago
Liu, X., Jiao, B., Zhang, W., Xiao, T., Hou, L., Pan, C., Tang, B., Shen, L."Identification of CHCHD2 mutations in patients with Alzheimer's disease, amyotrophic lateral sclerosis and frontotemporal dementia in China". Molecular Medicine Reports 18, no. 1 (2018): 461-466. https://doi.org/10.3892/mmr.2018.8962
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