Submitted by Clark Pinyan, MD
Edited by Nandita Keole, MD
Schwann Cell Transcript Biomarkers For Hereditary Neuropathy Skin Biopsies
. Svaren J et al. Ann Neurol 2019;85:887-898
Authors used quantitative PCR measurements to determine levels of PMP22 mRNA in skin biopsies of patients with CMT1A compared with controls. Though PMP22 mRNA expression is known to be increased in CMT1A affected Schwann cells, its level in biopsies is variable from patient to patient and doesn’t correlate well with clinical disease, largely due to variability in number of Schwann cells present. Authors attempted to normalize PMP22 mRNA expression vs. Schwann cell specific genes which are not altered by CMT1A status. This showed reproducible elevations in PMP22 compared to controls.
Skin biopsy is a commonly used practice for autonomic or small fiber neuropathy, and special staining techniques or analysis may become relevant for specific disorders. As treatments emerge for CMT, skin biopsy may prove a useful marker for treatment response or disease progression.