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Abnormal cardiac energetics in patients carrying the A3243G mtDNA mutation measured in vivo using phosphorus MR spectroscopy

Lookup NU author(s): Professor Andrew Blamire, Dr Jenifer Crilley, Professor Patrick Chinnery

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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<0.001). Cardiac PCr/ATP was within the normal range only in one case that showed normal echocardiography. Our results point to a central role of bioenergetics deficit in the development of cardiac hypertrophy in patients with the A3243G mtDNA mutation. Impaired cardiac energy metabolism in patients with normal echocardiography suggests that the enhancement of mitochondrial function may be beneficial not only to patients with cardiac hypertrophy but also to those patients carrying the mutation in the absence of signs of cardiac hypertrophy and/or dysfunction but with cardiac bioenergetics deficit. © 2004 Elsevier B.V. All rights reserved.


Publication metadata

Author(s): Lodi R, Rajagopalan B, Blamire AM, Crilley JG, Styles P, Chinnery PF

Publication type: Article

Publication status: Published

Journal: Biochimica et Biophysica Acta: Bioenergetics

Year: 2004

Volume: 1657

Issue: 2-3

Pages: 146-150

ISSN (print): 0005-2728

ISSN (electronic): 0006-3002

Publisher: Elsevier BV

URL: http://dx.doi.org/10.1016/j.bbabio.2004.05.003

DOI: 10.1016/j.bbabio.2004.05.003

PubMed id: 15238271


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