Facioscapulohumeral muscular dystrophy (FSHD) causes progressive muscle atrophy and is the third most common myopathy worldwide. Over half of FSHD patients also have abnormal eye vascularization that can lead to vision problems. Using Xenopus as a model organism, Ryan Wuebbles, Meredith Hanel and Peter Jones examined the role of frg1 (FSHD region gene 1), a gene involved in muscle development. They found that FRG1 is highly expressed in the vasculature and plays a role in angiogenesis and vascular organization. This suggests that misregulation of the FRG1 gene may cause concomitant vascular and muscular deficits associated with FSHD.
2009