Human iPSC Models to Study Orphan Diseases: Muscular Dystrophies.

ABSTRACT:

Purpose of review

Muscular dystrophies (MDs) are a spectrum of muscle disorders, which are caused by a number of gene mutations. The studies of MDs are limited due to lack of appropriate models, except for Duchenne muscular dystrophy (DMD), myotonic dystrophy type 1 (DM1), facioscapulohumeral muscular dystrophy (FSHD), and certain type of limb-girdle muscular dystrophy (LGMD). Human induced pluripotent stem cell (iPSC) technologies are emerging to offer a useful model for mechanistic studies, drug discovery, and cell-based therapy to supplement in vivo animal models. This review will focus on current applications of iPSC as disease models of MDs for studies of pathogenic mechanisms and therapeutic development.

Recent findings

Many and more human disease-specific iPSCs have b

SUBMITTER: Xia G 

PROVIDER: S-EPMC6244555 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature