CPEO_POLG
- Gene
- POLG
- Disease
- CPEO
- Inheritance
- Classification
- Disputed
- Total Score
- 7
- Publications Reviewed
- 1
- Publication Span
- Last Updated
- 08/18/2025
- Curator(s)
- Macayla Weiner, Laurel Hiatt
Description
The curated POLG CAG/polyglutamine repeat has disputed relevance to CPEO. The provided sources evaluate the repeat primarily as a modifier/association signal in Parkinson disease and Friedreich ataxia, and note that pathogenic POLG coding variants can cause progressive external ophthalmoplegia; they do not provide direct evidence that POLG CAG-repeat variation causes CPEO.
Genetic evidence
Total: 6
| Singular Evidence | Probands | PMID:22963882 | 6 | Reports 191 Parkinson disease cases and 191 controls sequenced for the POLG1 CAG repeat; it does not describe CPEO probands. |
1 rows
Experimental evidence
Total: 1
| Function | Biochemical function | PMID:22963882 | 0.5 | Gene-level evidence: POLG encodes the catalytic subunit of mitochondrial DNA polymerase gamma, which replicates and repairs mtDNA; PMID 22963882 does not provide a CPEO-specific functional assay of the CAG repeat. |
| Function | Protein interaction | PMID:22963882 | 0.5 | Gene-level evidence: polymerase gamma is described as a heterotrimer comprising one POLG1 catalytic subunit and two POLG2 accessory subunits; no CAG-repeat- or CPEO-specific altered interaction is shown. |
2 rows
Note: Maximum score caps apply at evidence type, category, and supercategory levels, so section totals may be lower than the raw sum of row scores.