Regulation of Cardiolipin Remodeling in Human Lymphoblasts
Bibliographic record
Abstract
Background Barth Syndrome (BTHS) is a rare X‐linked genetic disorder caused by mutations in the TAZ gene. The TAZ gene product, tafazzin, is responsible for remodeling Cardiolipin (CL) with the necessary acyl species. TAZ mutations can result in cardiomyopathy. Monolysocardiolipin acyltransferase‐1 (MLCL AT‐1) is another enzyme capable of CL remodeling. Objective To examine if MLCL AT‐1 complements tafazzin in the remodeling of CL. Methods Lymphoblasts from normal or BTHS patients were transfected with TAZ and/or MLCL AT‐1 RNAi or an MLCL AT‐1 carrying plasmid. TAZ and MLCL AT‐1 gene expression were analyzed. Other analyses included measuring CL mass, MLCL AT‐1 enzyme activity and radiolabelling studies. Our studies also include using BN PAGE to analyse mitochondrial complexes in normal and BTHS lymphoblasts. Results MLCL AT‐1 gene expression increased when TAZ was knocked down. Expression of MLCL AT‐1 elevated CL levels, increased [1‐ 14 C] Linoleic acid incorporation into CL and raised MLCL AT‐1 enzyme activity in normal and BTHS cells in which TAZ was knocked down. The double knockdown results are not lower than TAZ knockdown alone. Results show that MLCL AT‐1 over‐expression is able to elevate mitochondrial complex I formation in BTHS lymphoblasts. Conclusion MLCL AT‐1 over‐expression may serve as a potential therapeutic approach to treat BTHS. Funding: CIHR, Barth Syndrome Foundations of USA and Canada
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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 | 0.000 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 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) | 0.001 | 0.001 |
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".