Endocrine Journal | |
Hepatic Failure and Enhanced Oxidative Stress in Mitochondrial Diabetes | |
Kiyomi NISHIMAKI7  Riko KITAZAWA2  Shigeo OHTA7  Takeshi KONDO2  Keiji IIDA1  Hiroyuki YAMADA6  Yoshio FUJIOKA5  Hidesuke KAJI4  Kentaro TAKAHASHI1  Sohei KITAZAWA2  Ryoko TAKENO1  Masayo FUJIMOTO2  Yasuhiko OKIMURA3  Yutaka TAKAHASHI1  Hidetsuna KITAMURA5  Kazuo CHIHARA1  Genzo IGUCHI1  Fumio KANDA1  | |
[1] Division of Diabetes, Metabolism and Endocrinology, Department of Internal Medicine, Kobe University Graduate School of Medicine;Division of Pathology, Department of Pathology&Microbiology, Kobe University Graduate School of Medicine;Department of Basic Allied Medicine, Kobe University School of Medicine;College of Nursing Art and Culture;Division of Cardiovascular and Respiratory Medicine, Department of Internal Medicine, Kobe University Graduate School of Medicine;Division of Diabetes, Digestive, and Kidney Diseases, Department of Clinical Molecular Medicine, Kobe University Graduate School of Medicine;Department of Biochemistry and Cell Biology, Institute of Development and Aging Sciences, Graduate School of Medicine, Nippon Medical School | |
关键词: Mitochondria; Mutation; Diabetes; Hepatic steatosis; Oxidative stress; | |
DOI : 10.1507/endocrj.K07E-091 | |
学科分类:内分泌与代谢学 | |
来源: Japan Endocrine Society | |
【 摘 要 】
References(12)Cited-By(2)Mitochondrial diabetes is characterized by diabetes and hearing loss in maternal transmission with a heteroplasmic A3243G mutation in the mitochondrial gene. In patients with the mutation, it has been reported that hepatic involvement is rarely observed. We demonstrated a case of hypertrophic cardiomyopathy and hepatic failure with mitochondrial diabetes. To clarify the pathogenesis we analyzed the mitochondrial ultrastructure in the myocytes, the reactive oxygen species (ROS) production in the liver and the status of heteroplasmy of the mitochondrial A3243G mutation in the organs involved. In cardiomyocytes and skeletal muscle, electron microscopic analysis demonstrated typical morphological mitochondrial abnormalities. Immunohistochemical analysis demonstrated enhanced ROS production associated with marked steatosis in the liver, which is often associated with mitochondrial dysfunction. Analysis of the A3243G mutation revealed a substantial ratio of heteroplasmy in these organs including the liver. The presence of steatosis and enhanced oxidative stress in the liver suggested that hepatic failure was associated with mitochondrial dysfunction.
【 授权许可】
Unknown
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