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Article

The human OPA1delTTAG mutation induces adult onset and progressive auditory neuropathy in mice.

Cellular and molecular life sciences : CMLS - 9 Feb 2024

Affortit Corentin, Coyat Carolanne, Saidia Anissa Rym, Ceccato Jean-Charles, Charif Majida, Sarzi Emmanuelle, Flamant Frédéric, Guyot Romain, Cazevieille Chantal, Puel Jean-Luc, Lenaers Guy, Wang Jing

Abstract excerpt

Dominant optic atrophy (DOA) is one of the most prevalent forms of hereditary optic neuropathies and is mainly caused by heterozygous variants in OPA1, encoding a mitochondrial dynamin-related large GTPase. The clinical spectrum of DOA has been extended to a wide variety of syndromic presentations, called DOAplus, including deafness as the main secondary symptom associated to vision impairment. To date, the...

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PMID: 38334784
DOI: 10.1007/s00018-024-05115-4
PMCID: PMC10858076

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