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Mutations in MINAR2 encoding membrane integral NOTCH2-associated receptor 2 cause deafness in humans and mice

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Significance Molecular components of hearing in mammalians are not completely delineated. Via a genetic approach conducted in families with sensorineural hearing loss, this study presents MINAR2 as an indispensable element… Click to show full abstract

Significance Molecular components of hearing in mammalians are not completely delineated. Via a genetic approach conducted in families with sensorineural hearing loss, this study presents MINAR2 as an indispensable element of hearing in humans. Similarly, disruption of Minar2 in mice leads to progressive hearing loss associated with alterations in the stereocilia of hair cells, the receptors of hearing, while hair cells remain intact until later in life. We present MINAR2 as a gene working in the inner ear that is essential for hearing in humans and mice. Degeneration of sensory epithelium is a common consequence of hereditary deafness precluding genetic therapies. The preservation of hair cells in mutant mice at young ages makes MINAR2 a good candidate for intervention.

Keywords: hearing; hair cells; humans mice; mutations minar2; minar2 encoding; deafness

Journal Title: Proceedings of the National Academy of Sciences of the United States of America
Year Published: 2022

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