Genetic and Biohumoral Factors Involved in Menière's Disease and Their Correlation With Phenotypes

Ménière's Disease (MD) is an inner ear disorder characterized by episodic vertigo, fluctuating sensorineural hearing loss and aural fullness [1]; endolymphatic hydrops is commonly associated with the pathophysiology of the disorder, although current data support the hypothesis that hydrops is an epiphenomenon associated with different inner ear disorders. The frequency of familial cases has been estimated in the range between 5 and 15% and it has been hypothesized that the disorder may arise from the interplay of genetic and environmental factors. Different candidate genes have been studied, although to date genetic investigation produced no conclusive results .

Among others, considering the importance of ionic homeostasis in the inner ear for the maintenance of endocochlear potential, genetic of fluid and ionic homeostasis have been included. A mutation of KCNQ1 and KCNE1 channels, co-expressed in the inner ear and in the heart, leads to a severe sensorineural deafness and a collapse of the cochlear scala media as seen in Jervell and Lange-Nielsen syndrome.

The aim of this work was to assess the role of genetic polymorphisms located in genes involved in the regulation of ionic transport on an Italian population of patients with definite MD.

Inclusion criteria

• Patients with definite Menière's Disease according to the criteria of the Barany Society

Exclusion criteria

• surgically treated before the examination or if they had undergone intratympanic therapy with steroids or gentamicin