Interestingly, the 11th CpG site, which underwent significant methylation and demethylation during treatment and recovery, is located near the transcription start site of COL1A1. The loss of CpG methylation at this site in the MD recovery eyes may promote the transcription of COL1A1, which suggests renewed transcription of COL1A1 under these conditions. The gene discussed is COL1A1; the disease is Menkes disease.