Studying tinnitus linked to different disorders can lead to the identification of molecular mechanisms, early diagnosis, and the application of new drugs for treating tinnitus.
University of Granada researchers identify genes linked to tinnitus
Added value of this study
We have found a significant enrichment of missense rare variants in synaptic genes including ANK2, TSC2 and AKAP9 in patients with tinnitus extreme phenotype in Meniere disease patients. We also replicated these findings in an independent cohort of tinnitus patients from Sweden. Gene ontology (GO) and gene-set enrichment analyses revealed several pathways and biological processes involved in severe tinnitus, the top GO terms being membrane trafficking and cytoskeletal protein binding in neurons.
This is the first study reporting the association of rare variation in ANK2, TSC2 and, AKAP9 genes with severe tinnitus and supports the involvement of membrane trafficking and cytoskeletal protein binding in the pathophysiology of severe tinnitus.