A case of diabetic amyotrophy associated with 3243 mitochondrial tRNA(leu; UUR) mutation and successful therapy with coenzyme Q10

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 documen...

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Bibliographic Details
Published in:Endocrine journal 1995-04, Vol.42 (2), p.141-145
Main Authors: Suzuki, Y, Kadowaki, H, Atsumi, Y, Hosokawa, K, Katagiri, H, Kadowaki, T, Oka, Y, Uyama, K, Mokubo, A, Asahina, T
Format: Article
Language:English
Subjects:
Animals
Coenzymes
Diabetes Complications
Diabetes Mellitus - genetics
Humans
Male
Muscular Diseases - drug therapy
Muscular Diseases - genetics
Muscular Diseases - parasitology
Mutation
RNA - genetics
RNA, Mitochondrial
RNA, Transfer, Leu - genetics
Ubiquinone - analogs & derivatives
Ubiquinone - therapeutic use
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Summary: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.
ISSN:0918-8959
1348-4540
DOI:10.1507/endocrj.42.141