Muscle xenografts reproduce key molecular features of facioscapulohumeral muscular dystrophy.

We report that FSHD cells mature into organized and innervated human muscle fibers with minimal contamination of murine myonuclei. They also reconstitute the satellite cell niche within the xenografts. FSHD xenografts express DUX4 and DUX4 downstream targets, retain the 4q35 epigenetic signature of their original donors, and express a novel protein biomarker of FSHD, SLC34A2. Ours is the first scalable, mature in vivo human model of FSHD. It should be useful for studies of the pathogenic mechanism of the disease as well as for testing therapeutic strategies targeting DUX4 expression. PMID: 31306642 [PubMed - as supplied by publisher]

https://www.ncbi.nlm.nih.gov/pubmed/31306642?dopt=Abstract

Source: Experimental Neurology - July 11, 2019 Category: Neurology Authors: Mueller AL, O'Neill A, Jones TI, Llach A, Rojas LA, Sakellariou P, Stadler G, Wright WE, Eyerman D, Jones PL, Bloch RJ Tags: Exp Neurol Source Type: research