FSHD region gene 1 (FRG1), as the name suggests, is the primary candidate gene for fascioscapulohumeral musculardystrophy disease. It seemingly affects muscle physiology in normal individuals but in FSHD, where it is found to behighly upregulated, might be involved in disruption of face, scapula and humeral skeletal muscle. Literature on FRG1,reviewed from 1996 to 2016, reveals that it is primarily associated with muscle development and maintenance.Approximately 75% of FSHD patients also show vascular abnormalities indicating that FRG1 might have some part toplay in these abnormalities. Research involving vasculature in X. laevis larvae shows that FRG1 positively affectsnormal vasculature. Few of the well-established angiogenic regulators seem to get affected by abnormal expressionlevel of FRG1. Its primary localization in sub nuclear structures like Cajal bodies and nuclear speckles indicatesregulation of the above-mentioned factors by transcriptional and post-transcriptional machineries, but in-depth studiesneed to be done to conclude a clear statement. In this review, we have attempted to present all the work done onFRG1, all the lacunas which need to be unraveled, and hypothesized a model for our readers to get an insight into itsmolecular mechanism.
Volume 44 | Issue 5
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