Italian researchers have developed, in conjunction with the Perkin-Elmer laboratory, a test based on RNA sequencing (RNA-seq) to detect and interpret the pathogenic nature of certain variants of the DMD gene encoding the dystrophin on simple urine samples:
- the test analyzes DMD gene transcripts present in stem cells detectable in small amounts in urine;
- the study of the expression profile of other proteins in these same cells also allows a better understanding of the physiopathology.
Such an approach could also be used for monitoring therapies such as exon skipping with antisense oligonucleotides.
