Hypermethylation of the CpG island near the G4C2 repeat in ALS with a C9orf72 expansion.

  title={Hypermethylation of the CpG island near the G4C2 repeat in ALS with a C9orf72 expansion.},
  author={Zhengrui Xi and Lorne H. Zinman and Danielle Moreno and Jennifer C. Schymick and Yan Liang and Christine Sato and Yonglan Zheng and Mahdi Ghani and Samar Dib and Julia Lee Keith and Janice Robertson and Ekaterina A. Rogaeva},
  journal={American journal of human genetics},
  volume={92 6},
The G4C2 repeat expansion in C9orf72 is the most common known cause of amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD). We tested the hypothesis that the repeat expansion causes aberrant CpG methylation near the G4C2 repeat, which could be responsible for the downregulation of gene expression. We investigated the CpG methylation profile by two methods using genomic DNA from the blood of individuals with ALS (37 expansion carriers and 64 noncarriers), normal… CONTINUE READING
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