University of Oulu

Soini, Heidi K.; Karjalainen, Minna K.; Hinttala, Reetta; Rautio, Arja; Hallman, Mikko; Uusimaa, Johanna (2017) Mitochondrial hearing loss mutations among Finnish preterm and term-born infants. Audiology Research 7:189,

Mitochondrial hearing loss mutations among Finnish preterm and term-born infants

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Author: Soini, Heidi K.1,2,3; Karjalainen, Minna K.1,2,3; Hinttala, Reetta1,2,3,4;
Organizations: 1The Research Unit of Pediatrics, Pediatric Neurology, Pediatric Surgery, Child Psychiatry, Dermatology, Clinical Genetics and Obstetrics and Gynecology, Otorhinolaryngology and Ophthalmology (PEDEGO), University of Oulu
2Medical Research Center, University of Oulu and Oulu University Hospital, Oulu
3Department of Children and Adolescents, Oulu University Hospital, Oulu
4Biocenter Oulu, Oulu University, Oulu
5Faculty of Medicine, Arctic Health and Thule Institute, University of Oulu, Finland
Format: article
Version: published version
Access: open
Online Access: PDF Full Text (PDF, 0.6 MB)
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Language: English
Published: PAGEPress, 2017
Publish Date: 2018-01-30


Mitochondrial ribosomal 12S subunit gene (MTRNR1) is a hot spot for hearing loss mutations. Mutations such as m.1555A>G, m.1494C>T and m.1095C>T, cause sensitivity to aminoglycosides. Aminoglycoside treatment induces permanent hearing loss or deafness in the carriers and should therefore be avoided. The prevalence of these sensitivity mutations varies in different countries and populations. Over 90% of preterm children need aminoglycoside treatment during their first weeks of life. Infants who carry a mitochondrial sensitivity mutation can develop a life-long sensorineural hearing impairment as a side-effect of aminoglycoside treatment. Total of 813 Finnish preterm (born G, m.1494T>C and m.1095C>T mutations. The population prevalence of m.1555A>G was determined to be 0.12% in Finland. M.1494C>T and m.1095C>T mutations were absent. Out of the 813 infants, a term-born infant was found to harbor m.1555A>G at 81% heteroplasmy, while his mother’s heteroplasmy was 68%. Both had normal hearing and had not received aminoglycosides. Mothers with a family history of hearing loss who are at risk of preterm labor would benefit from antenatal genotyping of m.1555A>G mutation. The prevalence of m.1555A>G in Finns was close to other European countries. M.1494C>T and m.1095C>T mutations either do not occur in the Finnish population or they are very rare. This study highlights the importance of population-specific genotyping of MTRNR1 aminoglycoside sensitivity mutations, especially in countries with liberal aminoglycoside use.

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Series: Audiology research
ISSN: 2039-4330
ISSN-E: 2039-4349
ISSN-L: 2039-4330
Volume: 7
Issue: 2
Article number: 189
DOI: 10.4081/audiores.2017.189
Type of Publication: A1 Journal article – refereed
Field of Science: 3123 Gynaecology and paediatrics
3125 Otorhinolaryngology, ophthalmology
Funding: This work was supported by grants from Päivikki and Sakari Sohlberg foundation, Alma and K.A. Snellman foundation and Academy of Finland (project: 266498).
Academy of Finland Grant Number: 266498
Detailed Information: 266498 (Academy of Finland Funding decision)
Copyright information: © Copyright H.K. Soini et al., 2017. This work is licensed under a Creative Commons Attribution NonCommercial 4.0 License (CC BY-NC 4.0).