Cochlear histopathology associated with mitochondrial transfer RNA(Leu(UUR)) gene mutation.
Using dot-blot hybridization and Southern blotting, the authors detected a point mutation at nucleotide pair (np) 3243 in mitochondrial DNA from temporal bone sections of a woman with diabetes and deafness. The mutation could not be detected with agarose gel electrophoresis, suggesting that the degree of heteroplasmy is low. Histologically, there was marked degeneration of the stria vascularis and outer hair cells throughout the cochlea, as well as a reduction of spiral ganglion cells in the base. These findings suggest that the mutation affects these inner ear structures preferentially and that deafness can occur even when the proportion of np 3243 mutation is low.
Yamasoba
T
T
Department of Otolaryngology, University of Tokyo, Japan. tyamasoba-tk@umin.ac.jp
Tsukuda
K
K
Oka
Y
Y
Kobayashi
T
T
Kaga
K
K
D003051:Cochlea / Q000473:pathology; D004272:DNA, Mitochondrial / Q000032:analysis*; D003922:Diabetes Mellitus, Type 1 / Q000150:complications; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000150:complications; D006801:Humans; D008875:Middle Aged; D017354:Point Mutation / Q000235:genetics*; D012356:RNA, Transfer, Leu / Q000235:genetics*; D013701:Temporal Bone / Q000473:pathology*
D004272:DNA, Mitochondrial; D012356:RNA, Transfer, Leu