Phosphorus‐31 magnetic resonance spectroscopy of skeletal muscle in maternally inherited diabetes and deafness A3243G mitochondrial mutation carriers |
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| Authors: | Saskia GC van Elderen MD Joost Doornbos PhD Einar HR van Essen MD Herman HPJ Lemkes MD J Antonie Maassen PhD Jan WA Smit MD Albert de Roos MD |
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| Institution: | 1. Department of Radiology, Leiden University Medical Centre, Leiden, The Netherlands;2. Department of Endocrinology, Leiden University Medical Centre, Leiden, The Netherlands;3. Department of Molecular Cell Biology, Leiden University Medical Centre, Leiden, The Netherlands;4. Institute for Research in Extramural Medicine and Department of Endocrinology, Vrije Universiteit Medical Center, Amsterdam, the Netherlands |
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| Abstract: | Purpose To investigate high‐energy phosphate metabolism in striated skeletal muscle of patients with Maternally Inherited Diabetes and Deafness (MIDD) syndrome. Materials and Methods In 11 patients with the MIDD mutation (six with diabetes mellitus DM] and five non‐DM) and eight healthy subjects, phosphocreatine (PCr) and inorganic phosphate (Pi) in the vastus medialis muscle was measured immediately after exercise using 31P‐magnetic resonance spectroscopy (MRS). The half‐time of recovery (t1/2) of monoexponentially fitted (PCr+Pi)/PCr was calculated from spectra obtained every 4 seconds after cessation of exercise. A multiple linear regression model was used for statistical analysis. Results Patients with the MIDD mutation showed a significantly prolonged t1/2 (PCr+Pi)/PCr after exercise as compared to controls (13.6±3.0 vs. 8.7±1.3 sec, P = 0.01). No association between the presence of DM and t1/2 (PCr + Pi)/PCr was found (P = 0.382). Conclusion MIDD patients showed impaired mitochondrial oxidative phosphorylation in skeletal muscle shortly after exercise, irrespective of the presence of DM. J. Magn. Reson. Imaging 2009;29:127–131. © 2008 Wiley‐Liss, Inc. |
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| Keywords: | A3243G mutation MIDD 31P‐MRS |
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