Mitochondrial Respiratory Chain Enzymatic Activities on Skin Fibroblasts in Patients With Mutant Glucocerebrosidase and PARK2 Genes
Bibliographic record
Abstract
Background: Impairments of mitochondrial respiratory chain have been observed in skin fibroblast of patients with sporadic Parkinson’s disease (PD) and PARK2 mutations. This study assesses enzymatic activity of mitochondrial respiratory chain in skin fibroblasts of Thai PD patients with glucocerebrosidase (GBA) and PARK2 mutations. Methods: Skin fibroblasts were obtained from 14 individuals including four mutant GBA alleles, three mutant PARK2 alleles, and seven PD patients without mutations. Five age-matched healthy controls were recruited. Activities of complex I - V were assessed using enzyme-linked immunosorbent assay, and normalized with citrate synthase activity. All measurements were performed in triplicate. Results: Complex V activity seemed to be lower in PD patients than controls. Among patients, activities of complexes I, II, IV and V seemed to be lower in the mutant group than those without mutation. Among patients with mutations, the mutant GBA group showed slightly lower activities of complexes II, IV, and V than the mutant PARK2 group. Conclusions: A skin fibroblast culture may be a useful tool to investigate how GBA mutation leads to impairment of the energetic metabolism in patients with PD. J Neurol Res. 2016;6(1):12-17 doi: http://dx.doi.org/10.14740/jnr375w
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How this classification was reachedexpand
Full frame distilled prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.000 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.000 | 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 teacher head, 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".