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Bilateral Sensorineural Hearing Loss Associated With the Point Mutation in Mitochondrial Genome
Author(s) -
Oshima Takeshi,
Ueda Narihisa,
Ikeda Katsuhisa,
Abe Koji,
Takasaka Tomonori
Publication year - 1996
Publication title -
the laryngoscope
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.181
H-Index - 148
eISSN - 1531-4995
pISSN - 0023-852X
DOI - 10.1097/00005537-199601000-00009
Subject(s) - mitochondrial dna , sensorineural hearing loss , melas syndrome , cochlea , point mutation , hearing loss , medicine , mutation , mitochondrial disease , audiology , genetics , mitochondrial myopathy , pathology , biology , gene
Mitochondrial DNA (mtDNA) mutation associated with sensorineural hearing loss (SNHL) has previously been described in MELAS ( m itochondrial myopathy, e ncephalopathy, l actic a cidosis 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.