| Fuel utilization in subjects with carnitine palmitoyltransferase 2 gene mutations. | |
| | |
MedLine Citation:
|
PMID: 15622536 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
Patients with the myopathic form of carnitine palmitoyltransferase II (CPT II) deficiency typically experience muscle pain, cramps, and myoglobinuria during prolonged exercise. It has been suggested that carriers of CPT2 gene mutations also may have milder clinical symptoms, but fatty acid oxidation (FAO) has never been investigated in vivo in this group. We studied fuel utilization by indirect calorimetry and stable isotope methodology in four patients with CPT II deficiency, three subjects who carried one CPT2 gene mutation, and five healthy control subjects. Cycle exercise at a constant workload of 50% of maximal oxygen uptake capacity was used to facilitate FAO. We found that in vivo oxidation of long-chain fatty acids was normal at rest but severely impaired during prolonged, low-intensity exercise in patients with CPT II deficiency, and that two of the single CPT2 gene mutation carriers, who displayed symptoms of CPT II deficiency, had an FAO comparable with the patients. These results indicate that residual CPT II activity is sufficient to maintain long-chain FAO at rest in CPT II deficiency but not to increase FAO during exercise. The findings also suggest that single CPT2 gene mutations may exert a dominant-negative effect on the tetrameric CPT II protein. |
| | |
Authors:
|
Mette C Ørngreen; Morten Dunø; Rasmus Ejstrup; Ernst Christensen; Marianne Schwartz; Massimo Sacchetti; John Vissing |
Related Documents
:
|
15734836 - Calcineurin does not mediate exercise-induced increase in muscle glut4. 3316916 - Protein degradation during endurance exercise and recovery. 7010156 - The adaptive response of skeletal muscle to increased use. 18680146 - Effect of exercise duration on the key pathways of ceramide metabolism in rat skeletal ... 16402246 - Relationship between oxidative stress in muscle tissue and weight-lifting-induced muscl... 21815126 - Effect of exercise on vascular superoxide dismutase expression in high-risk pregnancy. |
Publication Detail:
|
Type: Comparative Study; Journal Article |
Journal Detail:
|
Title: Annals of neurology Volume: 57 ISSN: 0364-5134 ISO Abbreviation: Ann. Neurol. Publication Date: 2005 Jan |
Date Detail:
|
Created Date: 2005-01-03 Completed Date: 2005-03-14 Revised Date: 2006-11-15 |
Medline Journal Info:
|
Nlm Unique ID: 7707449 Medline TA: Ann Neurol Country: United States |
Other Details:
|
Languages: eng Pagination: 60-6 Citation Subset: IM |
Affiliation:
|
Copenhagen Muscle Research Center, National University Hospital, Rigshospitalet, Blegdamsvej 9, DK-2100 Copenhagen, Denmark. rh10679@rh.dk |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Adolescent Adult Alanine / blood Blood Glucose / metabolism Calorimetry / methods Carnitine O-Palmitoyltransferase / genetics, physiology* DNA Mutational Analysis / methods Energy Metabolism / physiology* Exercise Test / methods Fatty Acids / blood Female Heart Rate / genetics Hormones / blood Humans Isotopes / metabolism Lactic Acid / blood Male Middle Aged Muscular Diseases / blood, genetics*, physiopathology* Mutation* Oxygen / blood Respiration Workload |
| Chemical | |
Reg. No./Substance:
|
0/Blood Glucose; 0/Fatty Acids; 0/Hormones; 0/Isotopes; 50-21-5/Lactic Acid; 56-41-7/Alanine; 7782-44-7/Oxygen; EC 2.3.1.21/Carnitine O-Palmitoyltransferase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Glioma therapy and real-time imaging of neural precursor cell migration and tumor regression.
Next Document: Interleukin-1beta contributes to the generation of experimental febrile seizures.