Abstract
Mitochondrial myopathies are becoming increasingly recognized as uncommon causes of muscular disorders1 characterized by weakness and severe exercise intolerance. Electron micrographs of the muscle show gross abnormality of the mitochondrial structure. Such defects are expected to affect the energy metabolism of muscle but investigations in human subjects have necessarily been limited by the need for biopsy material. Following extensive phosphorus nuclear magnetic resonance (31P NMR) measurements on isolated organs, tissues and selected parts of live animals (see ref. 2 for review), it has become possible to observe non-invasively the energy metabolism of human muscle in vivo3–5. Here, we report abnormal recovery of phosphocreatine (PCr) and pH after exercise of the forearm in two sisters, one of whom has been shown to have a mitochondrial NADH-coenzyme Q reductase deficiency and the other presumed to have the same defect on the basis of clinical symptoms, histology and biochemical studies of blood constituents6. Our results, together with studies on normal subjects and patients with impaired glycogen metabolism, allow the assessment of the relative importance of oxidative and glycolytic regeneration of high-energy phosphates during exercise and recovery.
This is a preview of subscription content, access via your institution
Access options
Subscribe to this journal
Receive 51 print issues and online access
$199.00 per year
only $3.90 per issue
Buy this article
- Purchase on Springer Link
- Instant access to full article PDF
Prices may be subject to local taxes which are calculated during checkout
Similar content being viewed by others
References
Morgan Hughes, J. A. Recent Advances in Neurology Vol. 3 (eds Matthews, W. B. & Glaser, G. H.) 1–46 (1982).
Gadian, D. G. & Radda, G. K. A. Rev. Biochem. 50, 69–83 (1981).
Cresshull, I. D. et al. Bull. magn. Resonance 2, 426 (1981).
Cresshull, I. D. et al. J. Physiol., Lond. 317, 18P (1981).
Ross, B. D. et al. New Engl. J. Med. 304, 1338–1342 (1981).
Morgan-Hughes, J. A. Darveniza, P. Landon, D. N. Land, J. M. & Clark, J. B. J. neurol. Sci. 43, 27–46 (1979).
Gadian, D. G. et al. Lancet ii, 774–775 (1981).
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Radda, G., Bore, P., Gadian, D. et al. 31P NMR examination of two patients with NADH-CoQ reductase deficiency. Nature 295, 608–609 (1982). https://doi.org/10.1038/295608a0
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1038/295608a0
This article is cited by
-
Use of in vivo magnetic resonance spectroscopy for studying metabolic diseases
Experimental & Molecular Medicine (2015)
-
Functional and molecular imaging with MRI: potential applications in paediatric radiology
Pediatric Radiology (2011)
-
Applications of magnetic resonance spectroscopy to diagnosis and monitoring of mitochondrial disease
The Italian Journal of Neurological Sciences (1997)
-
The role of magnetic resonance spectroscopy in the investigation of lactic acidosis and inborn errors of energy metabolism
Journal of Inherited Metabolic Disease (1996)
-
The treatment of congenital lactic acidoses
Journal of Inherited Metabolic Disease (1996)
Comments
By submitting a comment you agree to abide by our Terms and Community Guidelines. If you find something abusive or that does not comply with our terms or guidelines please flag it as inappropriate.