Peripheral myelin protein 22 in skin biopsies of people with Charcot-Marie-Tooth disease type 1A

Takeaway

  • New technologies have allowed development of an assay to reproducibly measure changes in the Charcot-Marie-Tooth disease 1A (CMT1A)-specific gene, peripheral myelin protein 22 (PMP22) in dermal skin biopsies; results were normalized against Schwann cell (SC)-specific genes that are independent of CMT1A status.

Why this matters

  • This sensitive assay has the potential to measure changes in PMP22 in skin biopsies of people with CMT1A to assess effects of therapeutic approaches.