Myocardial glucose uptake in patients with the m.3243A > G mutation in mitochondrial DNA

Mitochondrial mutations impair glucose oxidation and increase glucose uptake in cell cultures and lead to cardiomyopathy in patients. Here we characterize cardiac glucose uptake in 14 patients with the m.3243A > G mutation in mitochondrial DNA. The 14 patients with m.3243A > G and 13 controls...

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Bibliographic Details
Published in:Journal of inherited metabolic disease 2016-01, Vol.39 (1), p.67-74
Main Authors: Lindroos, Markus M., Pärkkä, Jussi P., Taittonen, Markku T., Iozzo, Patricia, Kärppä, Mikko, Hassinen, Ilmo E., Knuuti, Juhani, Nuutila, Pirjo, Majamaa, Kari
Format: Article
Language:English
Subjects:
Biochemistry
Blood Glucose - metabolism
Case-Control Studies
Diabetes Mellitus - genetics
Diabetes Mellitus - metabolism
DNA, Mitochondrial - genetics
Epithelium - metabolism
Female
Glucose - metabolism
Glucose Tolerance Test - methods
Human Genetics
Humans
Internal Medicine
Male
Medicine
Medicine & Public Health
Metabolic Diseases
Middle Aged
Mitochondria - genetics
Muscle, Skeletal - metabolism
Mutation - genetics
Myocardium - metabolism
Original Article
Pediatrics
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Summary:Mitochondrial mutations impair glucose oxidation and increase glucose uptake in cell cultures and lead to cardiomyopathy in patients. Here we characterize cardiac glucose uptake in 14 patients with the m.3243A > G mutation in mitochondrial DNA. The 14 patients with m.3243A > G and 13 controls were similar in age, physical activity and body mass index. Ten patients had diabetes. Left ventricular glucose uptake per tissue mass (LVGU) was measured with 2-[ 18  F]fluoro-2-deoxyglucose positron emission tomography during euglycemic hyperinsulinemia. Cardiac morphology and function were assessed with magnetic resonance imaging. We found that the LVGU was 25 % lower in the patients than that in the controls ( P  = 0.029). LVGU was inversely correlated with mutation heteroplasmy, glycated haemoglobin and fasting lactate in patients. The seven patients with mutation heteroplasmy ≥ 49 % had 44 % lower LVGU than the seven patients with heteroplasmy  G mutation. The glucose hypometabolism adds to the impaired cardiac energetics and likely contributes to the progression of the mitochondrial cardiomyopathy.
ISSN:0141-8955
1573-2665
DOI:10.1007/s10545-015-9865-1