title: Liver-specific mitochondrial respiratory chain complex I deficiency in fatal influenza encephalopathy.
abstract: We report on a 4-year-old boy who died from influenza encephalopathy. The clinical course and microscopic findings of the autopsied liver were compatible with Reye's syndrome. We examined the mitochondrial respiratory chain function by blue native polyacrylamide gel electrophoresis (BN-PAGE), western blotting, and respiratory chain enzyme activity assays. The activity of liver respiratory chain complex (CO) I was markedly decreased (7.2% of the respective control activity); whereas, the other respiratory chain complex activities were substantially normal (CO II, 57.9%; CO III, 122.3%; CO IV, 161.0%). The activities of CO I-IV in fibroblasts were normal (CO I, 82.0%; CO II, 83.1%; CO III, 72.9%; CO IV, 97.3%). The patient was diagnosed with liver-specific complex I deficiency. This inborn disorder may have contributed to the fatal outcome. We propose that relying only on fibroblast respiratory chain complex activities may lead to the misdiagnosis of liver-specific complex I deficiency.
authors: Department of Pediatrics and Child Health, Nihon University School of Medicine, Tokyo, Japan. chi-ka@sage.ocn.ne.jp
authors: Chikako
authors: C
authors: Arakawa
authors: Ayumi
authors: A
authors: Endo
authors: Ryutaro
authors: R
authors: Kohira
authors: Yukihiko
authors: Y
authors: Fujita
authors: Tatsuo
authors: T
authors: Fuchigami
authors: Hideo
authors: H
authors: Mugishima
authors: Akira
authors: A
authors: Ohtake
authors: Kei
authors: K
authors: Murayama
authors: Masato
authors: M
authors: Mori
authors: Rie
authors: R
authors: Miyata
authors: Yoshiho
authors: Y
authors: Hatai
mesh_terms: D002675:Child, Preschool; D042967:Electron Transport Complex I / Q000172:deficiency / Q000378:metabolism; D003576:Electron Transport Complex IV / Q000378:metabolism*; D004668:Encephalitis Viruses / Q000472:pathogenicity*; D006801:Humans; D007251:Influenza, Human / Q000150:complications*; D008099:Liver / Q000201:enzymology*; D008297:Male; D028361:Mitochondrial Diseases / Q000150:complications / Q000378:metabolism / Q000473:pathology
chemical_list: D003576:Electron Transport Complex IV; D042967:Electron Transport Complex I