FSHD / OPMD / MYOTONIC DYSTROPHY: P.232 Single-cell transcriptomes in facioscapulohumeral muscular dystrophy

Abstract

Facioscapulohumeral muscular dystrophy (FSHD) causes progressive muscle wasting triggered by aberrant de-repression of DUX4, a pro-apoptotic transcription factor, in <1:200 muscle cells. A single-cell approach may be informative to gain mechanistic insights regarding FSHD from these rare cells. We are using single-cell analyses to characterize i) infrequent cells expressing DUX4 during distinct stages of myogenic reprogramming, ii) cellular heterogeneity among FSHD models and acutely isolated cells from affected muscle, and iii) immune cell phenotypes in FSHD muscle.