Gaihede, Michael

Hestoy, Danjal Hofgaard

Hougaard, Dan Dupont

Højland, Allan Thomas

Petersen, Michael Bjørn

English

    Aalborg UniversitetAudiological and vestibular pathologies in subjects harbouring the mtDNA mutationA3243GHestoy, Danjal Hofgaard; Hougaard, Dan Dupont; Højland, Allan Thomas; Gaihede, Michael;Petersen, Michael BjørnPublication date:2017Link to publication from Aalborg UniversityCitation for published version (APA):Hestoy, D. H., Hougaard, D. D., Højland, A. T., Gaihede, M., & Petersen, M. B. (2017). Audiological andvestibular pathologies in subjects harbouring the mtDNA mutation A3243G. Poster presented at EuropeanHuman Genetics Conference 2017 (ESHG), København, Denmark.General rightsCopyright and moral rights for the publications made accessible in the public portal are retained by the authors and/or other copyright ownersand it is a condition of accessing publications that users recognise and abide by the legal requirements associated with these rights.            ? Users may download and print one copy of any publication from the public portal for the purpose of private study or research.            ? You may not further distribute the material or use it for any profit-making activity or commercial gain            ? You may freely distribute the URL identifying the publication in the public portal ?Take down policyIf you believe that this document breaches copyright please contact us at vbn@aub.aau.dk providing details, and we will remove access tothe work immediately and investigate your claim.Downloaded from vbn.aau.dk on: August 23, 2021Print this PagePresentation AbstractTitle: E-P06.01 - Audiological and vestibular pathologies in subjects harbouring the mtDNA mutation A3243G Keywords: A3243G; Audiological; Vestibular Authors: D. Hofgaard Hestoy1,2,3, D. D. Hougaard4,5,6, A. T. Højland1,2,6, M. L. Gaihede4,6, M. B. Petersen1,2,6; 1Department of Clinical Genetics, Aalborg University Hospital, Aalborg, Denmark, 2Research and Knowledge Center in Sensory Genetics, Aalborg University Hospital, Aalborg, Denmark, 3Faculty of Health Science, Aalborg University, Aalborg, Denmark, 4Department of Otolaryngology, Head & Neck Surgery, Aalborg University Hospital, Aalborg, Denmark, 5Department of Audiology, Aalborg University Hospital, Aalborg, Denmark, 6Department of Clinical Medicine, Aalborg University, Aalborg, Denmark. Abstract: Introduction: The mitochondrial DNA point mutation A3243G is known to express mainly two syndromes: Maternally Inherited Diabetes and Deafness (MIDD) and Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes (MELAS). Research has found Sensorineural Hearing loss (SNHL) to be the most frequent symptom in subjects bearing the A3243G mutation. Dysfunction of the vestibular organs is, however, scarcely investigated. With this study, we aim to examine the impact the A3243G mutation has on the inner ear. This was done by performing extensive vestibular and audiological examinations. Method: Eight subjects with blood verified A3243G mutation underwent thorough audiological and vestibular examinations: Tone and speech-audiometry, video Head Impulse Test (v-HIT) of all six semi-circular canals (SCC), ocular- and cervical-Vestibular Evoked Myogenic Potential (VEMP), and otoneurological examination. Subjective symptoms were evaluated with the Dizziness Handicap Inventory (DHI) questionnaire. Results: SNHL was found in seven subjects, one suffered a conductive hearing loss, combined mean PTA4 of 58,4 dB. Speech Discrimination (n=7) ranged from 24% to 100%, mean at 74%. v-HIT (n=42) found pathology in nine lateral SCCs, five posterior SCCs and one anterior SCC, three measurements were inconclusive. All (n=14) o-VEMPs were absent, nine c-VEMPs were absent and two were inconclusive. Through the DHI, six subjects reported none to mild dizziness, one reported moderate, and one severe dizziness. Conclusion: Our population showed pathology from all the audiological and vestibular end organs. Our findings indicated that the pathology was situated within the end organs, and not within the superior- and/or inferior vestibular nor cochlear nerves. Grants: None Presentation Time:Sunday, May 28, 2017, 9:00 AM - 5:45 PM The European Society of Human Genetics 2017 Side 1 af 1Abstract Print View11-12-2017

Audiological and vestibular pathologies in subjects harbouring the mtDNA mutation A3243G

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Audiological and vestibular pathologies in subjects harbouring the mtDNA mutation A3243G

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