Role of MLCL AT‐1 in Cardiolipin Metabolism: A potential Therapeutic approach to Barth Syndrome
Bibliographic record
Abstract
Barth Syndrome (BTHS) is a rare X‐linked genetic disorder caused by a mutation in the Tafazzin gene ( taz ), an enzyme involved in the remodelling pathway of cardiolipin (CL). Mutation in taz results in a biochemical deficiency of CL and accumulation of monolysocardiolipin (MLCL). We investigated the contribution of another enzyme, monolysocardiolipin acyltransferase‐1 (MLCL AT‐1), to the remodelling pathway of CL in human lymphoblasts. MLCL AT‐1 or taz or both were knocked down using RNAi in normal or BTHS lymphoblasts and MLCL AT‐1 enzyme activity examined. MLCL AT‐1 enzyme activity was reduced approximately 50% (p<0.05) when MLCL AT‐1 was knocked down in normal human lymphoblasts and unaltered when taz was knocked down. Knock down of both MLCL AT‐1 and taz simultaneously did not result in a further reduction in MLCL AT‐1 activity compared to knock down of MLCL AT‐1 alone. Expression of MLCL AT‐1 in BTHS lymphoblasts with different mutations in taz elevated CL synthesis and mass over 2‐fold (p<0.05) in these cells compared to controls. These studies indicate that MLCL AT‐1 may act independently of taz . This work was supported by grants from the Manitoba Health Research Council and the Barth Syndrome Foundation (USA & 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 | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.002 | 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".