Age of onset possibly associated with the degree of heteroplasmy in two male siblings with diabetes mellitus having an A to G transition at 3243 of mitochondrial DNA.
We describe two male siblings with diabetes mellitus caused by mitochondrial 3243 mutation. The level of heteroplasmy in peripheral blood leucocytes was determined by a last-cycle hot PCR method. The younger brother, who had 39% heteroplasmy, developed diabetes at age of 25, and demonstrated a lean body habitus and blunted insulin secretion. The elder brother, who had 22% heteroplasmy, was diagnosed at the age of 42. The younger brother showed a higher increment of serum lactate after exercise. In these siblings the level of heteroplasmy in their peripheral blood leucocytes appeared to be associated with age of onset of diabetes.
Kato
Y
Y
First Department of Internal Medicine, Nagoya University, School of Medicine, Nagoya, Japan.
Miura
Y
Y
Inagaki
A
A
Itatsu
T
T
Oiso
Y
Y
D000328:Adult; D017668:Age of Onset; D004272:DNA, Mitochondrial / Q000097:blood / Q000235:genetics*; D003920:Diabetes Mellitus / Q000097:blood / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012356:RNA, Transfer, Leu / Q000235:genetics*
D004272:DNA, Mitochondrial; D012356:RNA, Transfer, Leu