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Zebrafish in-vivo study reveals deleterious activity of human TBC1D24 genetic variants linked with autosomal dominant hearing loss.

Biochimica et biophysica acta. Molecular basis of disease - 1 Feb 2025

Sarosiak A, Jędrychowska J, Oziębło D, Gan N S, Bałdyga N, Leja M L, Węgierski T, Cruz I A, Raible D W, Skarżyński H, Tylzanowski P, Korzh V, Ołdak M

Abstract excerpt

Hearing loss is a common sensory impairment with a heterogeneous genetic etiology. Genetic variants in the TBC1D24 gene have recently emerged as an important cause of the non-syndromic autosomal dominant hearing loss (ADHL). However, the molecular mechanism behind the TBC1D24-associated ADHL is unknown. Using a zebrafish model, we investigated involvement of TBC1D24 in hearing and the functional effects of the...

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PMID: 39586506
DOI: 10.1016/j.bbadis.2024.167598

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