Strange as it seems, a new class of diseases is emerging that appears to be caused by mutations in untranslated regions of RNA. The protein-coding sequence of the relevant gene is uninterrupted and yet features of the disease flourish. Exactly how this happens is the subject of keen investigation that now promises to further intensify, following the publication in August of an important discovery.
Researchers at the University of Minnesota showed that myotonic dystrophy, known formally as dystrophia myotonica (DM), derives primarily from a mutation in untranslated RNA.1 Their finding, which concerns DM type 2, corroborates evidence of a decade earlier that DM1 is similarly caused.2 The two mutations, which occur on chromosomes 19 and 3, respectively, both result in the multisystemic signs and symptoms that characterize myotonic dystrophy. Moreover, both mutations are repeat expansions-nucleotide sequences that recur adjacently many more times than normal. A third type of...
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