Which genetic variant is associated with mitochondrial hearing loss due to Gentamycin?

The genetic variant MT-RNR1 A1555G is associated with mitochondrial hearing loss due to gentamicin exposure. This variant affects the MT-RNR1 gene, which encodes a mitochondrial ribosomal RNA component essential for mitochondrial protein synthesis. The A1555G mutation results in a predisposition to aminoglycoside-induced ototoxicity, especially to the antibiotic gentamicin, which can lead to irreversible hearing loss in individuals with this mutation.

Individuals harboring the A1555G variant have an increased risk of developing hearing loss when exposed to aminoglycoside antibiotics. The mechanism involves the disruption of mitochondrial function, leading to hair cell death in the cochlea, thereby causing hearing impairment. Identifying this variant helps clinicians assess the risk of hearing loss in patients who may require treatment with gentamicin or similar medications. The other variants listed are not associated with mitochondrial hearing loss from gentamicin, underscoring why MT-RNR1 A1555G is the relevant choice in this context.