Prevalence of Mitochondrial 1555A→G Mutation in Adults of European Descent
Authors:
- Himesha VandebonaHVHimesha Vandebona
- Paul MitchellPMPaul Mitchell
- Neil ManwaringNMNeil Manwaring
- Kate GriffithsKGKate Griffiths
- Bamini GopinathBGBamini Gopinath
- Jie Jin WangJWJie Jin Wang
- Carolyn M. SueCSCarolyn M. Sue
- 5 February 2009
- journal article
- letter
- Published by Massachusetts Medical Society in New England Journal of Medicine
- Vol. 360 (6) , 642-644
Abstract
Sensorineural hearing loss is the most common type of sensory impairment worldwide.1 We have found that pathogenic mitochondrial DNA (mtDNA) mutations, such as the m.3243A→G mutation associated with mitochondrial encephalopathy, lactic acidosis, and strokelike episodes (MELAS), are prevalent and can cause sensorineural hearing loss in adults of European descent.2 Polymorphisms within mtDNA can modify a patient's risk of hearing loss.3 The m.1555A→G mutation, which is located in the 12S ribosomal RNA gene of the mitochondrial genome, is known to cause hearing loss, especially after exposure to aminoglycoside antibiotics.4Keywords
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