A Case of Diabetic Amyotrophy Associated with 3243 Mitochondria) tRNA(leu; UUR) Mutation and Successful Therapy with Coenzyme Q10

Endocrine Journal

HIDEKI KATAGIRI³  KEIKO UYAMA¹  YOSHIHITO ATSUMI¹  HIROKO KADOWAKI²  ATSUKO MOKUBO¹  KAZUHIRO HOSOKAWA¹  CHISATO MURATA¹  TAKASHI KADOWAKI³  YOSHIHIKO SUZUKI¹  KEMPEI MATSUOKA¹  TAKAYUKI ASAHINA¹  YOSHITOMO OKA³ 

[1] Saiseikai Central Hospital;Institute for Diabetes Care and Research, Asahi Life Foundation;Third Department of Internal Medicine, Faculty of Medicine, University of Tokyo

关键词: Diabetic amyotrophy;    Mitochondrial myopathy;    Coenzyme Q10;    Diabetic peripheral neuropathy;    3243 mitochondrial tRNA mutation;   

DOI  :  10.1507/endocrj.42.141

学科分类：内分泌与代谢学

来源: Japan Endocrine Society

【 摘 要 】

References(14)Cited-By(16)We report the case of 71-year-old male who was once diagnosed as having diabetic amyotrophy, because of pronounced wasting in proximal muscles, massive weight loss, and development of paresthesia in his legs. Afterwards, ragged red fibers and mitochondrial tRNA mutation at position 3243 were documented in muscle biopsy. He had diabetes mellitus associated with 3243 mitochondrial DNA mutation, suggesting that clinically, diabetic amyotrophy may be overlapped with mitochondria-related disease entities in some parts. Coenzyme Q10 administration was effective in relieving the symptoms in his legs, fatigue, and residual urine in his bladder. These were confirmed with the improvement in neurological parameters.In conclusion, this case gives important help in understanding myopathy in diabetes. It would be important to check on the 3243 mitochondrial tRNA mutation in patients with diabetic amyotrophy and/or diabetic neuropathic symptoms.

【 授权许可】

Unknown