Download 13th International Conference on Cochlear Implants and Other

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Transcript
S43-4
Audiological profile of patients with the mutation m.A1555G
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Lechowicz U. , Pollak A. , Mueller-Malesinska M. , Iwanicka-Pronicka K. , Podgórska A. , Korniszewski L. ,
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Skarzynski H. , Ploski R.
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World Hearing Center, Institute of Physiology and Pathology of Hearing, Kajetany/ Warsaw, Poland, 2The Children's Memorial Health
Institute, Warsaw, Poland, 3Department of Medical Genetics, Medical University in Warsaw, Warsaw, Poland
Many commonly used medications may be in a transient and reversible, or permanent adverse effect on the ear
in humans. It is believed that some aminoglycoside antibiotics can damage the inner ear sensory epithelium. In
case of ototoxic aminoglycosides (e.g. gentamicin, amikin, streptomycin) causing the damage to the bacterial
ribosome, mitochondrial ribosome may be destroyed because of its similarity to the bacterial ribosome.
Susceptibility to such antibiotics action is passed in the maternal line, indicating the mitochondrial type of
inheritance.
Many mutations in the mitochondrial genes 12S rRNA and tRNASer related to "aminoglycoside" hearing loss
were described. One of them is m.A1555G mutation which occurs in a highly conserved region of 12SrRNA
molecule, leading to reduced production of ATP in the cells of the cochlea.
The aim of this study was to assess the level of hearing loss among patients with the mutation m.A1555G.
We studied a group of 1933 patients of the Institute of Physiology and Pathology of Hearing for the presence of
mutation m.A1555G using RealTime PCR technology. In the studied group 25 patients with this mutation were
found.
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