MITOCHONDRIAL RIBOSOMAL-RNA MUTATION ASSOCIATED WITH BOTH ANTIBIOTIC-INDUCED AND NON-SYNDROMIC DEAFNESS

Maternally transmitted non-syndromic deafness was described recently b oth in pedigrees with susceptibility to aminoglycoside ototoxicity and in a large Arab-Israeli pedigree. Because of the known action of amin oglycosides on bacterial ribosomes, we analysed the sequence of the mi tochondrial rRNA genes of three unrelated patients with familial amino glycoside-induced deafness. We also sequenced the complete mitochondri al genome of the Arab-Israeli pedigree. All four families shared a nuc leotide 1555 A to G substitution in the 12S rRNA gene, a site implicat ed in aminoglycoside activity. Our study offers the first description of a mitochondrial rRNA mutation leading to disease, the first cases o f non-syndromic deafness caused by a mitochondrial DNA mutation and th e first molecular genetic study of antibiotic-induced ototoxicity.