title: Development of diabetes in a familial amyotrophic lateral sclerosis patient carrying the I113T SOD1 mutation. Case Report.
abstract: Familial amyotrophic lateral sclerosis (ALS) are caused by the mutations in the copper (Cu) / zinc (Zn) superoxide dismutase 1 (SOD1) gene. SOD1 has been reported to play a critical role in glucose metabolism in yeast and cell models, and mice. However, effects of SOD1 for glucose metabolism in humans remain unknown. A 72-year-old woman was admitted to our hospital due to hyperglycemia. She showed severe muscle atrophy and visceral fat accumulation due to ALS. Her serum free fatty acids levels elevated and serum Cu and Zn levels decreased. Her two younger brothers and aunt were also diagnosed as having ALS, and DNA sequence analysis revealed the presence of the I113T SOD1 mutation. She may have developed diabetes due to SOD1 dysfunction by the I113T SOD1 mutation, and severe insulin resistance induced by ALS. The I113T SOD1 mutation may be the causative factor for diabetes as well as familial ALS.
authors.affiliation: Department of Internal Medicine, National Center for Global Health and Medicine Kohnodai Hospital, 1-7-1 Kohnodai, Ichikawa, Chiba, Japan.
authors.forename: Hidetaka
authors.initials: H
authors.lastname: Hamasaki
authors.affiliation: Department of Internal Medicine, National Center for Global Health and Medicine Kohnodai Hospital, 1-7-1 Kohnodai, Ichikawa, Chiba, Japan.
authors.forename: Yu
authors.initials: Y
authors.lastname: Takeuchi
authors.affiliation: Department of Internal Medicine, National Center for Global Health and Medicine Kohnodai Hospital, 1-7-1 Kohnodai, Ichikawa, Chiba, Japan.
authors.forename: Yoshinori
authors.initials: Y
authors.lastname: Masui
authors.affiliation: Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University, 2-5-1 Shikatacho, Okayama, Japan.
authors.forename: Yasuyuki
authors.initials: Y
authors.lastname: Ohta
authors.affiliation: Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University, 2-5-1 Shikatacho, Okayama, Japan.
authors.forename: Koji
authors.initials: K
authors.lastname: Abe
authors.affiliation: Yoshino Neurology Clinic, 3-3-16 Kohnodai, Ichikawa, Chiba, Japan.
authors.forename: Hiide
authors.initials: H
authors.lastname: Yoshino
authors.affiliation: Department of Internal Medicine, National Center for Global Health and Medicine Kohnodai Hospital, 1-7-1 Kohnodai, Ichikawa, Chiba, Japan.
authors.forename: Hidekatsu
authors.initials: H
authors.lastname: Yanai
mesh_terms: D000368:Aged; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics*; D003920:Diabetes Mellitus / Q000235:genetics* / Q000378:metabolism; D005260:Female; D006801:Humans; D009154:Mutation; D013482:Superoxide Dismutase / Q000235:genetics*; D000072105:Superoxide Dismutase-1
chemical_list: C000606290:SOD1 protein, human; C000606291:Sod1 protein, mouse; D013482:Superoxide Dismutase; D000072105:Superoxide Dismutase-1