Posted by Friends of FSH Research on Nov 29, 2018
Progress update by Sujatha Jagannathan
In the FSHD muscle, cells are flooded with aberrant and potentially harmful RNA molecules due to a lack of quality control caused by the expression of DUX4. Our lab is interested in: A) investigating the role of these aberrant RNAs in FSHD pathogenesis; and B) testing the utility of the unique protein products that may be generated from DUX4-induced aberrant RNAs as FSHD
biomarkers.
In the first six months of our funding period, we have established a highly complex procedure called “ribosome footprinting” that allows us to identify highly translated aberrant RNAs as well as ascertain the nature of the translation product. Preliminary data show promising evidence for the translation of aberrant protein products in DUX4-expressing cells.
See grant Deciphering the role of aberrant protein synthesis in FSHD
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