Phosphorus-31 magnetic resonance spectroscopy of skeletal muscle in maternally inherited diabetes and deafness A3243G mitochondrial mutation carriers.
OBJECTIVE
To investigate high-energy phosphate metabolism in striated skeletal muscle of patients with Maternally Inherited Diabetes and Deafness (MIDD) syndrome.


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 (31)P-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).


CONCLUSIONS
MIDD patients showed impaired mitochondrial oxidative phosphorylation in skeletal muscle shortly after exercise, irrespective of the presence of DM.
van Elderen
Saskia G C
SG
Department of Radiology, Leiden University Medical Centre, Leiden, The Netherlands. s.g.c.van_elderen@lumc.nl
Doornbos
Joost
J
van Essen
Einar H R
EH
Lemkes
Herman H P J
HH
Maassen
J Antonie
JA
Smit
Jan W A
JW
de Roos
Albert
A
D000328:Adult; D003638:Deafness / Q000503:physiopathology*; D003920:Diabetes Mellitus / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D008931:Mitochondria, Muscle / Q000235:genetics* / Q000378:metabolism*; D028361:Mitochondrial Diseases / Q000503:physiopathology*; D009035:Mothers; D018482:Muscle, Skeletal / Q000378:metabolism*; D009154:Mutation; D010758:Phosphorus / Q000032:analysis*; D010759:Phosphorus Isotopes / Q000032:analysis
D010759:Phosphorus Isotopes; D010758:Phosphorus