Development of diabetes in a familial amyotrophic lateral sclerosis patient carrying the I113T SOD1 mutation

Hidetaka Hamasaki, Yu Takeuchi, Yoshinori Masui, Yasuyuki Ohta, Koji Abe, Hiide Yoshino, Hidekatsu Yanai

Research output: Contribution to journalArticle

3 Citations (Scopus)

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 II 13T SOD1 mutation, and severe insulin resistance induced by ALS. The I113T SOD1 mutation maybe the causative factor for diabetes as well as familial ALS.

Original languageEnglish
Pages (from-to)414-416
Number of pages3
JournalNeuroendocrinology Letters
Volume36
Issue number5
Publication statusPublished - 2015

Fingerprint

Mutation
Amyotrophic Lateral Sclerosis
Zinc
Glucose
Muscular Atrophy
Intra-Abdominal Fat
Amyotrophic lateral sclerosis 1
Superoxide Dismutase-1
Serum
DNA Sequence Analysis
Nonesterified Fatty Acids
Hyperglycemia
Superoxide Dismutase
Insulin Resistance
Siblings
Copper
Yeasts
Genes

Keywords

  • Amyotrophic lateral sclerosis
  • Diabetes
  • Insulin resistance
  • SOD1

ASJC Scopus subject areas

  • Endocrinology
  • Endocrine and Autonomic Systems
  • Endocrinology, Diabetes and Metabolism
  • Clinical Neurology
  • Psychiatry and Mental health
  • Neurology

Cite this

Development of diabetes in a familial amyotrophic lateral sclerosis patient carrying the I113T SOD1 mutation. / Hamasaki, Hidetaka; Takeuchi, Yu; Masui, Yoshinori; Ohta, Yasuyuki; Abe, Koji; Yoshino, Hiide; Yanai, Hidekatsu.

In: Neuroendocrinology Letters, Vol. 36, No. 5, 2015, p. 414-416.

Research output: Contribution to journalArticle

Hamasaki, Hidetaka ; Takeuchi, Yu ; Masui, Yoshinori ; Ohta, Yasuyuki ; Abe, Koji ; Yoshino, Hiide ; Yanai, Hidekatsu. / Development of diabetes in a familial amyotrophic lateral sclerosis patient carrying the I113T SOD1 mutation. In: Neuroendocrinology Letters. 2015 ; Vol. 36, No. 5. pp. 414-416.
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