Iron dysregulation in mice engineered with a mutation associated with stuttering
Bibliographic record
Abstract
ABSTRACT Stuttering is a neurodevelopmental disorder characterized by involuntary disruptions in the normal fluency and timing of speech. Recently, stuttering has been related to specific point mutations in GNPTAB , a gene involved in lysosomal enzyme-targeting pathways, though it remains unclear how such a mutation might cause the stuttering phenotype. Herein, we studied mice engineered with the mutation in the Gnptab gene found in humans who stutter and found increased iron deposition in the basal ganglia of these mice. Further, we found these iron deposits localized predominantly with regional astrocytes when Perls’ stain was combined with an astrocyte-specific marker. Reducing iron deposition in the brain with iron chelation therapy improved vocalization symptoms in Gnptab -mutant mice. Our data suggest a relationship between the Gnptab mutation, iron homeostasis in astrocytes, and the stuttering phenotype, for which the underlying mechanisms remain to be elucidated.
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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) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 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 | 0.000 | 0.001 |
| 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".