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.
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.
The National Health Service (NHS) is a conglomerate name for the publicly funded health-care system of the United Kingdom (England, Scotland, and Wales). Gentamicin is the first-choice antibiotic if a newborn develops a serious bacterial infection. According to the University of Manchester, approximately 90,000 babies a year in the United Kingdom alone are treated with…
Artificial intelligence (AI) is being used in so many facets of our existence. It is disrupting the status quo and challenging previously held beliefs and systems. From the looks of it, AI’s application in the hearing health-care arena is present and growing. AI use in hearing aids, in particular, is garnering attention outside the field….
Electrical engineer Dr. Lichauan Liu of Northern Illinois University (NIU) has designed technology to prevent hearing loss in newborns who are in the neonatal intensive care unit (NICU). NICUs are noisy places. According to Almadhoob and Ohlsson (2020), sound levels in NICUs range from 7 dB to 120 dB and often exceed the maximum acceptable…