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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Bilateral sensorineural hearing loss associated with the point mutation in mitochondrial genome.

Mitochondrial DNA (mtDNA) mutation associated with sensorineural hearing loss (SNHL) has previously been described in MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes) and in aminoglycoside-induced deafness. The authors of this study report three cases of SNHL associated with mtDNA mutation (3243A-->G). They examined the clinical features of this type of SNHL by audiologic studies and examined the mtDNA mutation by the polymerase chain reaction technique. In the three cases described, the SNHL had an adult onset and was bilateral and symmetrical. All patients had adult-onset diabetes mellitus. Audiologic studies revealed that the SNHL in all patients derived from the cochlea rather than from retrocochlear sites. It is presumed that mtDNA mutation results in mitochondrial dysfunction in cochlear tissues (i.e., hair cells and stria vascularis) and in neurons of the auditory pathway. Genetic analysis of mtDNA offers new insight into the diagnosis and treatment of SNHL.[1]


  1. Bilateral sensorineural hearing loss associated with the point mutation in mitochondrial genome. Oshima, T., Ueda, N., Ikeda, K., Abe, K., Takasaka, T. Laryngoscope (1996) [Pubmed]
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