PDE12 mediated pruning of the poly-A tail of mitochondrial DNA-encoded tRNAs is essential for survival
Mitochondrial DNA (mtDNA)-encoded RNA molecules undergo extensive processing to generate mature RNA, including removal of spurious poly-A tails by phosphodiesterase12 (PDE12). A new study by Van Haute and colleagues (Van Haute et al, 2024) describes the first pathogenic variants in the human PDE12 g...
Saved in:
| Main Authors: | , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Springer Nature
2024-11-01
|
| Series: | EMBO Molecular Medicine |
| Online Access: | https://doi.org/10.1038/s44321-024-00171-6 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| Summary: | Mitochondrial DNA (mtDNA)-encoded RNA molecules undergo extensive processing to generate mature RNA, including removal of spurious poly-A tails by phosphodiesterase12 (PDE12). A new study by Van Haute and colleagues (Van Haute et al, 2024) describes the first pathogenic variants in the human PDE12 gene. The 3 missense mutations that were identified each carry severe phenotypic consequences that correlate with the presence or not of residual PDE12 protein, show cell-type-specific adaptive responses, and specificity in the mtDNA-encoded electron transport chain subunits that are most affected. These new data demonstrate the necessity of PDE12 for life, and provide invaluable insights into RNA processing in mitochondria. |
|---|---|
| ISSN: | 1757-4684 |