The human OPA1^delTTAG mutation induces adult onset and progressive auditory neuropathy in mice.

ABSTRACT: 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 pathophysiological mechanisms underlying the deafness in DOA remain unknown. To gain insights into the process leading to hearing impairment, we have analyzed the Opa1^delTTAG mouse model that recapitulates the DOAplus syndrome through complementary approaches combining morpho-physiology, biochemistry, and cellular and molecular biology. We found that Opa1^delTTAG mu

SUBMITTER: Affortit C 

PROVIDER: S-EPMC10858076 | biostudies-literature | 2024 Feb

REPOSITORIES: biostudies-literature