Mitochondrial 12S rRNA mutations associated with aminoglycoside ototoxicity

MX Guan - Mitochondrion, 2011 - Elsevier
The mitochondrial 12S rRNA is a hot spot for mutations associated with both aminoglycoside-
induced and nonsyndromic hearing loss. Of those, the homoplasmic 1555A> G and 1494C>
T mutations at the highly conserved decoding region of the 12S rRNA have been associated
with hearing loss worldwide. In particular, these two mutations account for a significant
number of cases of aminoglycoside ototoxicity. The 1555A> G or 1494C> T mutation is
expected to form a novel 1494C–G1555 or 1494U–A1555 base-pair at the highly conserved …