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Science News: Rise of Biomarkers – Part 3

Submitted and edited by Francisco Gomez, MD, News Science Editorial Board

Over the past several months, an ever increasing number of articles on biomarkers have been published. The AANEM News Science Editorial Board is striving to keep our readers abreast of these recent discoveries.
In “Rise of the Biomarkers – Part 3” (of a four-part series), biomarkers for Charcot-Marie-Tooth disease 1A are discussed.
Fledrich R, Mannil M, Leha A, et al. Biomarkers predict outcome in Charcot-Marie-Tooth disease 1A.
J Neurol Neurosurg Psychiatry 2017;88:941-952.
CMT is the most common inheritable neuropathy following a slowly demyelinating course, which has variable progression and severity, even among dizygotic twins.
This paper sought to evaluate biomarkers for the evaluation of CMT1A severity and prognosis. Investigators conducted a multi-center trial, collecting 311 CMT patients from 9 centers in total, 58% female with a median age of 43 years. They conducted CMT neuropathy scores and neuropathology studies via skin biopsies. A distinct cutaneous gene expression profile emerged with mRNA clusters correlating both with each other and with disease severity CDA, CTSA, GRIA1, ENPP1, ANPEP, FN3KRP, GSTT2, PPAR6. In addition, they found a gene expression cluster correlating with disease progression after 2-3 years in a 45 patient follow-up cohort (GSTT2, CTSA, PPAR6, CDA, ENPP1, NRG1). Investigators concluded that not only are skin biopsy derived biomarkers viable for prognostication and severity determination in CMT1A, but that said markers may be of use in future assays as objective measures.
Comment: This study not only opens a new door for CMT1A biomarkers as a step forward in prognostication of the disease, but, as the authors sagely note, may increase the sensitivity of future studies via an objective measurement of progression. 

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