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  • Title: Audiological and genetic features of the mtDNA mutations.
    Author: Liu XZ, Angeli S, Ouyang XM, Liu W, Ke XM, Liu YH, Liu SX, Du LL, Deng XW, Yuan H, Yan D.
    Journal: Acta Otolaryngol; 2008 Jul; 128(7):732-8. PubMed ID: 18568513.
    Abstract:
    CONCLUSIONS: Significant difference in the incidence of mitochondrial DNA (mtDNA) mutations was found between the Chinese and USA populations. The identification of the mtDNA A1555G mutation in a large proportion of Chinese probands with nonsyndromic sensorineural hearing loss (NSHL) provides a molecular explanation for the high prevalence of aminoglycoside-induced deafness in China. OBJECTIVE: The aim was to characterize the audiological and genetic features of NSHL due to mutations in mtDNA. SUBJECTS AND METHODS: The mtDNA and audiogram analyses were performed in 498 NSHL patients (290 from China and 208 from the USA) with and without history of aminoglycoside exposure. A PCR and restriction enzyme digestion protocol was used for mutational screening and the European Workshop on Genetic Hearing Loss criteria were applied for audiological classification. RESULTS: All Chinese probands (15.5%) with mtDNA mutation were found to carry the homoplasmic mtDNA A1555G mutation, whereas four probands (1.9%) from the USA were found to carry the mtDNA A1555G and two (1%) had mtDNA G7444A. Approximately 63% of the probands with mtDNA mutations had post-lingual hearing loss and 56.8% of them had a medical history of exposure to aminoglycosides. Hearing losses are bilateral, sensorineural, and symmetric. The main audiogram shapes found were sloping.
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