Temporal Bone Histopathological and Quantitative Analysis of Mitochondrial DNA in MELAS

Autor: Takahashi, Katsumasa, Merchant, Saumil N., Miyazawa, Tetsuo, Yamaguchi, Toshikazu, McKenna, Michael J., Kouda, Hiroko, Iino, Yukiko, Someya, Tsutomu, Tamagawa, Yuya, Takiyama, Yoshihisa, Nakano, Imaharu, Saito, Ken, Boyer, Philip, Kitamura, Ken
Zdroj: The Laryngoscope; August 2003, Vol. 113 Issue: 8 p1362-1368, 7p
Abstrakt: Objectives/HypothesisAlthough hearing loss is common in MELAS (syndrome of mitochondrial encephalopathy, lactic acidosis and stroke‐like episodes), the histopathology of the temporal bone has not been reported. The majority of cases of MELAS are linked to a mitochondrial DNA (mtDNA) mutation at nucleotide 3243. In MELAS, normal mtDNA and mutant mtDNA coexist in a heteroplasmic manner. The purpose of the study was to report the otopathological findings from two patients with MELAS and quantitative mtDNA analysis in the inner ear of one of these patients.
Databáze: Supplemental Index