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.
Recent Posts
How Do Animals Perceive Music?
Music can be defined as vocal, instrumental, or mechanical sounds, with rhythm, melody or harmony, and often, an expression of human emotion. Music can transcend…
‘Eye’ on Health: AI Detects Dizziness and Balance Disorders Remotely
Interesting research led by audiologist Ali Danesh, PhD, at Florida Atlantic University (FAU) helped develop a novel, proof-of-concept tool to help identify nystagmus using a…
Rizatriptan vs. Placebo for Attacks of Vestibular Migraine: A Randomized Clinical Trial
Jeffrey Staab, MD, and colleagues studied the effectiveness of rizatriptan as a treatment option for vestibular migraine. Their research included 134 patients between the ages of…