Increased phosphofructokinase protein expression in patients with myophosphorylase deficiency (McArdle’s disease).
Bibliographic record
Abstract
McArdle’s disease is an autosomal recessive condition resulting in the absence of skeletal muscle phosphorylase. This condition places skeletal muscle under metabolic stress as evidenced by elevated creatine kinase activity in blood and muscle pain and cramping during mild to moderate exercise. We hypothesized that cellular adaptations would occur to compensate for the reduced glycogen flux including; enhanced glucose uptake/glycolytic flux and increased mitochondrial capacity. Muscle biopsies were obtained from patients with McArdle’s disease (N=11) and age and sex matched patient control subjects (N=13). Western blotting was used to determine protein content for: phosphofructokinase (PFK), AMP activated protein kinase (AMPK), citrate synthase (CS) and cytochrome oxidase (COX subunits II and IV). PFK protein content was higher in McArdle’s patients as compared to controls (P < 0.05), with no differences in total AMPK, CS, COX II or COX IV (P = NS). In summary, it appears that an increased glycolytic flux capacity (PFK) is an important compensatory strategy by skeletal muscle in response to a reduction in glycogenolytic flux; whereas, mitochondrial biogenesis does not appear to be altered significantly. These results support the observations of clinical improvement with exogenous glucose provision during exercise in McArdle’s patients by enhancing pyruvate availability via glycolysis ( N Engl J Med 2003; 349 :–2509). (This work was supported with a donation from Giant Tiger Stores).
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How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.001 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.001 | 0.000 |
| Insufficient payload (model declined to judge) | 0.003 | 0.000 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".