1. Abnormal cardiac energetics in patients carrying the A3243G mtDNA mutation measured in vivo using phosphorus MR spectroscopy
- Author
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Patrick F. Chinnery, Andrew M. Blamire, Peter Styles, Bheeshma Rajagopalan, Jenifer G. Crilley, and Raffaele Lodi
- Subjects
Adult ,Male ,In vivo magnetic resonance spectroscopy ,medicine.medical_specialty ,Mitochondrial DNA ,Cardiomyopathy ,Biophysics ,Biology ,medicine.disease_cause ,DNA, Mitochondrial ,Biochemistry ,Phosphocreatine ,chemistry.chemical_compound ,In vivo ,Internal medicine ,Magnetic resonance spectroscopy ,medicine ,Humans ,Mutation ,Transition (genetics) ,Myocardium ,Phosphorus ,Cell Biology ,medicine.disease ,Magnetic Resonance Imaging ,Heteroplasmy ,Endocrinology ,Metabolism ,chemistry ,Echocardiography ,Female - Abstract
Cardiomyopathy is a frequent cause of morbidity and mortality in patients carrying the A3243G transition in the mitochondrial DNA (mtDNA) tRNALeu(UUR) gene, the most common heteroplasmic single mtDNA defect. We used phosphorus magnetic resonance spectroscopy (31P-MRS) to look for evidence of an in vivo bioenergetics defect in patients carrying the A3243G mtDNA mutation with and without echocardiographic signs of left ventricle hypertrophy (LVH). Eight patients, three with LVH, carrying the A3243G mtDNA mutation and 10 healthy subjects underwent one-dimensional chemical shift imaging 31P-MRS. In the patients, mean cardiac phosphocreatine to adenosine triphosphate ratio (PCr/ATP) (1.55±0.58) was significantly reduced compared to the control group (2.34±0.14; P
- Published
- 2004
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