IBS GRANADA scientists identify for the first time the genes associated with noise in the ears
An international team of scientists, led by the University of Granada and the Biosanitary Research Institute of Granada (ibs.GRANADA), discovers that noise in the ears or tinnitus is due to an excess of rare mutations in the ANK2 and TSC2 genes
It is a nuisance that can be very disabling. and is associated with deafness, noise intolerance, headache, and hypertension
An international team of scientists, led by the University of Granada (UGR) and the Biosanitary Research Institute of Granada (ibs.GRANADA), has discovered the first genes associated with noise in the ears or tinnitus, a symptom that presents up to 15 % of the population.
It is an annoyance generally in the form of buzzing, beeping or low or high-pitched noises that can be heard temporarily or chronically, and are accentuated when there is absolute silence in the environment. It can become very disabling for 1% of the population, and is associated with deafness, noise intolerance, headache, and hypertension.
Severe tinnitus has a hereditary component that has been shown in family aggregation and twin concordance studies. In this work, which publishes the magazine biomedicine, researchers have identified an excess of rare mutations in genes ANK2 and TSC2 in patients with Menière's disease and severe tinnitus. Menière's disease is a disorder of the inner ear that presents loss of hearing, episodes of vertigo and tinnitus.
These results have been validated in a second group of Swedish tinnitus patients and were not found in a third cohort of epilepsy patients.
"Our findings indicate that the proteins produced by these genes would be involved in the reorganization of the connections between the neurons that cause the noises. The gene ANK2 It has been related to autism, a developmental disorder that also causes increased sensitivity to noise”, explains the main author of this work, José Antonio López Escámez, from the Department of Surgery and its specialties at the UGR.
This work is part of the doctoral thesis of Sana Amanat, predoctoral student of the Biomedicine Program of the University of Granada and the European School for Interdisciplinary Research on Tinnitus (https://esit.
The Otology and Otoneurology research group at ibs.GRANADA, led by López-Escámez, participates in three European projects (H2020 MSCA-ITN-2016-722046, H2020-SC1-2019-848261, GNP-182 GENDER-Net Co-Plus Fund), coordinating genomic studies of patients with tinnitus in Europe, and collaborating with the University of Regensburg, the University of Nottingham and the Karolinska Institutet in Stockholm, among other centers.
The interest in studying severe tinnitus in different diseases can lead to the identification of molecular mechanisms, early diagnosis and the application of new drugs for its treatment.
Bibliographic reference:
Burden of rare variants in synaptic genes in patients with severe tinnitus: An exome based extreme phenotype study
Sana Amanat, Alvaro Gallego-Martinez, Joseph Sollini, Patricia Perez-Carpena, Juan M. Espinosa-Sanchez, Ismael Aran, Andres Soto-Varela, Angel Batueca Caletrio, Barbara Canlon, Patrick May, Christopher R. Cederroth, Jose A. Lopez -Scame
biomedicine, Volume 66, 2021,103309, ISSN 2352-3964
https://doi.org/10.1016/j.
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