Screening of genetic variants of Ménière's disease

• Grant number: 18/18667-5
• Support Opportunities: Scholarships in Brazil - Scientific Initiation
• Start date: May 01, 2019
• End date: April 30, 2020
• Field of knowledge: Biological Sciences - Genetics - Human and Medical Genetics
• Principal Investigator: Edi Lúcia Sartorato
• Grantee: Luis Gustavo Lantin
• Host Institution: Centro de Biologia Molecular e Engenharia Genética (CBMEG). Universidade Estadual de Campinas (UNICAMP). Campinas , SP, Brazil

Abstract

Ménière's disease (DM) is the second most common labyrinth disease in Brazil. It is characterized by the presence of symptomatic tetrad: vertigo, hearing loss, tinnitus and aural fullness. It can occur at any age, being more frequent in adults between 30-50 years and less common in children and young adults. The incidence varies depending on the geographical region and ethnic group, however it seems to be more frequent in Caucasians. The cause of DM is still unknown; probably result from a combination of environmental and genetic factors (multifactorial). Genes involved in the regulation of homeostasis have been considered as candidates associated with DM. Some variants have been associated with the genetic etiology of DM or related to severity of symptoms. In the DPT gene, which encodes the dermatopontin protein, a rare variant was associated with this condition in two families with variable expressivity segregating with the complete phenotype of DM. Likewise, a variant in the SLC44A2 gene, an antigen expressed on the inner ear support cells, was associated with the severity of DM. Mutations and polymorphisms play an important role in the developmental symptoms of diseases. Thus, the present work aims to trace variants of these genes mentioned in patients with a diagnostic hypothesis of DM. This work may contribute to the molecular diagnosis and better understanding of the pathophysiology of Ménière's disease.