Diabetes mellitus associated with 3243 mitochondrial tRNA(Leu(UUR)) mutation: clinical features and coenzyme Q10 treatment.
Diabetes mellitus associated with mitochondrial tRNA mutation at position 3243(DM-Mt3243) is a new disease. Patients have a distinctly different picture from MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes). During observations at the Saiseikai Central Hospital, the following findings were noted in DM-Mt3243 patients: DM-Mt3243 patients are diagnosed earlier with diabetes, compared to NIDDM (non-insulin dependent diabetes mellitus) controls without family history. DM-Mt3243 patients often need insulin more often than NIDDM controls without family history. Post-treatment neuropathy and insulin edema are often found in DM-Mt3243, and the two phenomena possibly have a similar pathophysiology related to mitochondrial dysfunction. Ambiguous psychiatric disorders of functional psychosis are observed frequently in DM-Mt3243. Mild headache is common in DM-Mt3243 cases. Ambiguous neuromuscular abnormalities such as sleep disturbance, paresthesia of the legs, edema of the legs, and palpitation may be symptoms associated with mitochondrial dysfunction in DM-Mt3243. Coenzyme Q may be effective in the relief of these neuromuscular symptoms.
Suzuki
Y
Y
Saiseikai Central Hospital, Tokyo, Japan.
Taniyama
M
M
Muramatsu
T
T
Atsumi
Y
Y
Hosokawa
K
K
Asahina
T
T
Shimada
A
A
Murata
C
C
Matsuoka
K
K
D000328:Adult; D000368:Aged; D002986:Clinical Trials as Topic; D003067:Coenzymes; D004272:DNA, Mitochondrial / Q000235:genetics*; D003863:Depression / Q000175:diagnosis; D003920:Diabetes Mellitus / Q000145:classification / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics* / Q000523:psychology; D003924:Diabetes Mellitus, Type 2 / Q000175:diagnosis / Q000235:genetics; D003937:Diagnosis, Differential; D004487:Edema / Q000209:etiology; D005260:Female; D006801:Humans; D007328:Insulin / Q000009:adverse effects / Q000627:therapeutic use; D008297:Male; D008875:Middle Aged; D017237:Mitochondrial Encephalomyopathies / Q000188:drug therapy / Q000235:genetics* / Q000523:psychology; D010523:Peripheral Nervous System Diseases / Q000209:etiology; D017354:Point Mutation; D011618:Psychotic Disorders / Q000175:diagnosis / Q000209:etiology; D012356:RNA, Transfer, Leu / Q000235:genetics*; D014451:Ubiquinone / Q000031:analogs & derivatives* / Q000627:therapeutic use
D003067:Coenzymes; D004272:DNA, Mitochondrial; D007328:Insulin; D012356:RNA, Transfer, Leu; D014451:Ubiquinone; C024989:coenzyme Q10