Early onset of diabetes mellitus associated with the mitochondrial DNA T14709C point mutation: patient report and literature review.
We report a family in which a mother and son were affected with diabetes mellitus and myopathy characterized by ragged red fibers and suggestive of mitochondrial disease. Mitochondrial DNA (mtDNA) analysis of DNA isolated from peripheral blood showed a T-->C point mutation at nucleotide position 14709, in the transfer RNA gene for glutamic acid. We review the association of diabetes and mtDNA mutations. This child's case is unusual because of the early onset of diabetes, which is more typical of mtDNA deletions.
Damore
M E
ME
Department of Pediatrics, North Shore University Hospital-New York University School of Medicine, Manhasset 11030, USA.
Speiser
P W
PW
Slonim
A E
AE
New
M I
MI
Shanske
S
S
Xia
W
W
Santorelli
F M
FM
DiMauro
S
S
D000328:Adult; D017668:Age of Onset; D015139:Blotting, Southern; D002675:Child, Preschool; D004272:DNA, Mitochondrial / Q000235:genetics*; D048909:Diabetes Complications; D003920:Diabetes Mellitus / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D017240:Mitochondrial Myopathies / Q000150:complications* / Q000235:genetics; D017354:Point Mutation
D004272:DNA, Mitochondrial