title: Audiological features and mitochondrial DNA sequence in a large family carrying mitochondrial A1555G mutation without use of aminoglycoside.
abstract: To elucidate the pathophysiological and genetic mechanisms of hearing loss associated with the homoplasmic mitochondrial A1555G mutation in the absence of aminoglycoside exposure, we conducted audiological and genetic analyses on 67 maternally related members of a large Japanese family carrying this mutation. A consistent pattern was evident in the audiograms, with features of sensory presbycusis, cochlear origin at all levels of hearing loss, and a high degree of vulnerability of outer hair cells. That the degree of hearing loss was similar in affected subjects within the same sibling group but differed between sibling groups suggests the involvement of nuclear modifier genes. Total mitochondrial DNA sequences were completely identical among subjects with various levels of hearing loss, and lacked additional pathogenic mutations. For the diagnosis of sensorineural hearing loss, the mitochondrial A1555G mutation should be considered when these features are present even in the absence of aminoglycoside exposure.
authors.affiliation: Department of Otolaryngology, National Tokyo Medical Center, Higashigaoka 2-5-1, Meguro-ku, Tokyo 152-8902, Japan.
authors.forename: Tatsuo
authors.initials: T
authors.lastname: Matsunaga
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Kumanomido
authors.forename: Masae
authors.initials: M
authors.lastname: Shiroma
authors.forename: Yu-ichi
authors.initials: Y
authors.lastname: Goto
authors.forename: Shin-ichi
authors.initials: S
authors.lastname: Usami
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001301:Audiometry, Pure-Tone; D002648:Child; D002675:Child, Preschool; D004272:DNA, Mitochondrial / Q000235:genetics*; D016057:Evoked Potentials, Auditory, Brain Stem; D005260:Female; D034381:Hearing Loss / Q000175:diagnosis / Q000235:genetics*; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D017084:Otoacoustic Emissions, Spontaneous; D010375:Pedigree
chemical_list: D004272:DNA, Mitochondrial