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December 14, 2021

New Genetic Findings in Familial Meniere’s Disease

  • In the News

Meniere’s disease is a rare disorder, affecting both cochlear and vestibular sections of the labyrinth.

Increased volume of endolymph in both sections have been reported in confirmed cases using histopathological studies (Rauch et al., 1989). However, these findings do not account for the all of the related symptoms in the complex disease.

A recent study (Roman-Naranjo et al., 2021) revealed mutations in the gene MYO7A, which has been associated with stereocilia tip link and ankle link proteins in several subjects with familial Meniere’s disease. Stereocilia links are responsible for regulating mechanotransduction (MET), a critical step in hair cell firing. These findings may suggest that, in addition to endolymph volume irregularities, stereocilia irregularities may also play a part in some cases.

The researchers also discovered a digenic inheritance pattern in addition to autosomal dominant inheritance pattern that could explain the disease’s heterogeneity and penetrance within families.

For a deep dive into genetic inheritance patterns, and a few audiology related cases, review the articles in the references below.

References

Deltas C. (2018) Digenic inheritance and genetic modifiers. Clin Genet 93(3):429–438.

Fallerini C, Baldassarri M, Trevisson E, et al. (2017) Alport syndrome: impact of digenic inheritance in patients management. Clin Genet 92(1):34–44.

Lopez-Escamez JA, Carey J, Chung W, et al. (2015) Diagnostic criteria for Menière’s disease. J Vestib Res 25:1–7.

Rauch S, Merchant S, Thedinger B. (1989) Menière’s syndrome and endolymphatic hydrops: Double-blind temporal bone study. Ann Otol Rhinol Laryngol 98:873–883.

Roman-Naranjo P, Moleon M, Aran I, et al. (2021) Rare coding variants involving MYO7A and other genes encoding stereocilia link proteins in familial meniere disease. Hear Res 409:108329.

Schäffer AA. (2013) Digenic inheritance in medical genetics. J Med Genet 50(10):641–652.

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