Mitochondrial Complex V Deficiency Caused by a Homozygous Splice Variant in <scp>ATP5PO</scp>
Bibliographic record
Abstract
Most complex V subunits are nuclear encoded and so far, were not found in association with recognized Mendelian disorders. ATP5PO is a candidate gene for complex V mitochondrial disease. It encodes the oligomycin sensitivity-conferring protein (OSCP), an essential component of the "stalk" region that links the F1 and F0 domains of the ATP synthase complex. We report a 4-month-old girl, born at 35 weeks' gestation to a consanguineous couple via cesarean section due to fetal growth restriction and antenatal echocardiographic findings of moderate biventricular hypertrophy. At birth, she required intubation, ventilation, and surfactant therapy. The patient experienced intermittent hyperlactatemia, apneic spells, encephalopathy, axial hypotonia, and abnormal neonatal reflexes. She passed away at 4 months of age, and whole-exome sequencing revealed a homozygous splice variant (c.87 + 3A > G; p?) in ATP5PO. This gene was reported as a candidate gene, where additional evidence is needed to establish whether there is a relationship between this gene variant and human disease. So far and to our best knowledge, only four cases with a pathogenic variant in this gene have been reported. Mitochondrial respiratory chain analysis performed on fibroblasts revealed reduced ATPase enzyme activity with approximately 35% of the mean enzyme activity observed in the control reference range, with a decreased enzyme activity ratio relative to citrate synthase. These results suggest that isolated complex V enzyme deficiency is associated with the homozygous VUS identified in the ATP5PO gene in this patient and provide further functional support that ATP5PO is involved in complex V assembly and function.
Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.
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 | 0.000 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.001 |
| 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".