Are Antioxidants a Potential Therapy for FSHD? A Review of the Literature

Figure 1

The molecular signatures of chromosome 4 in both FSHD and healthy individuals. Healthy unaffected individuals carry 11–100 repeat units, whereas individuals with FSHD carry less than 15 repeat units (green triangles represent repeat units). Contraction of the D4Z4 repeat in FSHD results in the protein DUX4 being expressed but only in conjunction with a 4qA allele and working pLAM. Individuals with FSHD have an increased amount of hypomethylated CpGs which also contributes to the transcription of DUX4.