Islet cell antibodies in diabetes mellitus associated with a mitochondrial tRNA(Leu(UUR)) gene mutation.
An A3243G point mutation of the mitochondrial tRNA(Leu(UUR)) gene was detected in a Caucasian family with maternal diabetes mellitus and signs of mitochondrial dysfunction such as muscular hypotonia, encephalopathy, lactic acidosis, stroke-like episodes (MELAS), neurosensory hearing loss, cardial pre-excitation, and short stature. Low levels (10 JDF) of islet cell antibodies (ICA) in insulin-treated diabetes of the mother and impaired glucose tolerance with high levels of ICA (80 JDF) in her older son indicated that mitochondrial diabetes mellitus may involve beta cell damage. Furthermore, exocrine pancreas cell damage may also occur since the stroke-like episodes of this son were combined with pancreatitis. In all family members HLA types and plasma antioxidants were determined. Normal concentrations of hydro- and lipophilic antioxidants (including ubiquinol-10) were found.
Oexle
K
K
Department of Pediatrics, Humboldt-University Medical Center (Charité), Berlin, Germany.
Oberle
J
J
Finckh
B
B
Kohlschütter
A
A
Nagy
M
M
Seibel
P
P
Seissler
J
J
Hübner
C
C
D001323:Autoantibodies / Q000235:genetics*; D001483:Base Sequence; D002648:Child; D003920:Diabetes Mellitus / Q000235:genetics*; D016640:Diabetes, Gestational / Q000235:genetics; D005260:Female; D006681:HLA-D Antigens / Q000235:genetics; D006319:Hearing Loss, Sensorineural / Q000235:genetics; D006801:Humans; D006973:Hypertension / Q000235:genetics; D007515:Islets of Langerhans / Q000276:immunology; D017241:MELAS Syndrome / Q000235:genetics; D008297:Male; D008875:Middle Aged; D010195:Pancreatitis / Q000235:genetics; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D012313:RNA / Q000235:genetics*; D000077278:RNA, Mitochondrial; D012356:RNA, Transfer, Leu / Q000235:genetics*; D044465:White People
D001323:Autoantibodies; D006681:HLA-D Antigens; D000077278:RNA, Mitochondrial; D012356:RNA, Transfer, Leu; C024211:islet cell antibody; D012313:RNA