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Non-syndromic mitochondrial hearing loss

Non-syndromic mitochondrial deafness is characterized by moderate to profound hearing loss and by the presence of a pathogenic variant in mitochondrial DNA genes. Certain pathogenic variants in these genes may be associated with predisposition to ototoxicity caused by aminoglycosides and/or late-onset sensorineural hearing loss. Hearing loss associated with aminoglycoside ototoxicity is bilateral and severe to profound, occur from a few days to weeks after administration of any amount (even a single dose) of an aminoglycoside antibiotic such as gentamicin, tobramycin, amikacin, kanamycin, or streptomycin.

The MT-RNR1 (encoding mitochondrial RNA ribosome 12S) and MT-TS1 (encoding RNA serine mitochondrial transfer 1) are the two genes currently known that can determine pathogenic variants in non-syndromic mitochondrial hearing loss and deafness.

Gene or region studied

  • 12S RNA (MTRNR1)
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