A CASE OF DIABETIC AMYOTROPHY ASSOCIATED WITH 3243 MITOCHONDRIAL TRNA(LEU UUR) MUTATION AND SUCCESSFUL THERAPY WITH COENZYME-Q10

被引:25
作者
SUZUKI, Y
KADOWAKI, H
ATSUMI, Y
HOSOKAWA, K
KATAGIRI, H
KADOWAKI, T
OKA, Y
UYAMA, K
MOKUBO, A
ASAHINA, T
MURATA, C
MATSUOKA, K
机构
[1] ASAHI LIFE FDN,INST DIABET CARE & RES,TOKYO 160,JAPAN
[2] UNIV TOKYO,FAC MED,DEPT INTERNAL MED 3,TOKYO 113,JAPAN
关键词
DIABETIC AMYOTROPHY; MITOCHONDRIAL MYOPATHY; COENZYME Q10; DIABETIC PERIPHERAL NEUROPATHY; 3243 MITOCHONDRIAL TRANSFER-RNA MUTATION;
D O I
10.1507/endocrj.42.141
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
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.
引用
收藏
页码:141 / 145
页数:5
相关论文
共 14 条
[1]   PROXIMAL DIABETIC NEUROPATHY [J].
ASBURY, AK .
ANNALS OF NEUROLOGY, 1977, 2 (03) :179-180
[2]   UBIDECARENONE IN THE TREATMENT OF MITOCHONDRIAL MYOPATHIES - A MULTICENTER DOUBLE-BLIND TRIAL [J].
BRESOLIN, N ;
DORIGUZZI, C ;
PONZETTO, C ;
ANGELINI, C ;
MORONI, I ;
CASTELLI, E ;
COSSUTTA, E ;
BINDA, A ;
GALLANTI, A ;
GABELLINI, S ;
PICCOLO, G ;
MARTINUZZI, A ;
CIAFALONI, E ;
ARNAUDO, E ;
LICIARDELLO, L ;
CARENZI, A ;
SCARLATO, G .
JOURNAL OF THE NEUROLOGICAL SCIENCES, 1990, 100 (1-2) :70-78
[3]  
GARLAND H, 1955, BRIT MED J, V26, P1287
[4]   DOES THE MITOCHONDRIAL-DNA PLAY A ROLE IN THE PATHOGENESIS OF DIABETES [J].
GERBITZ, KD .
DIABETOLOGIA, 1992, 35 (12) :1181-1186
[5]   A MUTATION IN THE TRANSFER RNALEU(UUR) GENE ASSOCIATED WITH THE MELAS SUBGROUP OF MITOCHONDRIAL ENCEPHALOMYOPATHIES [J].
GOTO, Y ;
NONAKA, I ;
HORAI, S .
NATURE, 1990, 348 (6302) :651-653
[6]  
GREGERSEN G, 1969, ACTA MED SCAND, V185, P303
[7]   DIABETIC AMYOTROPHY - CLINICAL AND ELECTRONMICROSCOPIC STUDIES IN 6 PATIENTS [J].
HAMILTON, CR ;
DOBSON, HL ;
MARSHALL, J .
AMERICAN JOURNAL OF THE MEDICAL SCIENCES, 1968, 256 (02) :81-&
[8]   MITOCHONDRIAL GENE MUTATION AND INSULIN-DEFICIENT TYPE OF DIABETES-MELLITUS [J].
KADOWAKI, H ;
TOBE, K ;
MORI, Y ;
SAKURA, H ;
SAKUTA, R ;
NONAKA, I ;
HAGURA, R ;
YAZAKI, Y ;
AKANUMA, Y ;
KADOWAKI, T .
LANCET, 1993, 341 (8849) :893-894
[9]   A SUBTYPE OF DIABETES-MELLITUS ASSOCIATED WITH A MUTATION OF MITOCHONDRIAL-DNA [J].
KADOWAKI, T ;
KADOWAKI, H ;
MORI, Y ;
TOBE, K ;
SAKUTA, R ;
SUZUKI, Y ;
TANABE, Y ;
SAKURA, H ;
AWATA, T ;
GOTO, Y ;
HAYAKAWA, T ;
MATSUOKA, K ;
KAWAMORI, R ;
KAMADA, T ;
HORAI, S ;
NONAKA, I ;
HAGURA, R ;
AKANUMA, Y ;
YAZAKI, Y .
NEW ENGLAND JOURNAL OF MEDICINE, 1994, 330 (14) :962-968
[10]   MITOCHONDRIAL DIABETES-MELLITUS - PREVALENCE AND CLINICAL CHARACTERIZATION OF DIABETES DUE TO MITOCHONDRIAL TRNA(LEU(UUR)) GENE MUTATION IN JAPANESE PATIENTS [J].
KATAGIRI, H ;
ASANO, T ;
ISHIHARA, H ;
INUKAI, K ;
ANAI, M ;
YAMANOUCHI, T ;
TSUKUDA, K ;
KIKUCHI, M ;
KITAOKA, H ;
OHSAWA, N ;
YAZAKI, Y ;
OKA, Y .
DIABETOLOGIA, 1994, 37 (05) :504-510