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Audiological and genetic features of the mtDNA mutations.

AbstractCONCLUSIONS:
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.
AuthorsX Z Liu, S Angeli, X M Ouyang, W Liu, X M Ke, Y H Liu, S X Liu, L L Du, X W Deng, H Yuan, D Yan
JournalActa oto-laryngologica (Acta Otolaryngol) Vol. 128 Issue 7 Pg. 732-8 (Jul 2008) ISSN: 0001-6489 [Print] England
PMID18568513 (Publication Type: Comparative Study, Journal Article, Multicenter Study, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't)
Chemical References
  • Aminoglycosides
  • DNA, Mitochondrial
Topics
  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Aminoglycosides (adverse effects)
  • Asian People
  • Audiometry, Pure-Tone
  • Child
  • China (epidemiology)
  • DNA, Mitochondrial (genetics)
  • Deafness (chemically induced, genetics, physiopathology)
  • Gene Frequency
  • Hearing (physiology)
  • Hearing Loss, Sensorineural (epidemiology, genetics, physiopathology)
  • Humans
  • Middle Aged
  • Mutation
  • Polymerase Chain Reaction
  • United States (epidemiology)
  • White People

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