Research Roundup
From elephant anti-cancer genes to epigenetic drivers of CRC metastasis, we bring you the latest updates
Georgia Hulme | | News
Demystifying MS
A genome-wide association study has identified rs10191329 – located between the genes DYSF and ZNF638 – as a risk allele associated with multiple sclerosis severity. Researchers found that individuals that inherit this variant from both parents have a high chance of needing a walking aid 3.7 years before non-carriers (1).
Flipping the script
A new study has uncovered 16 new risk loci associated with immunoglobulin A nephropathy (IgAN). The results showed that the genetic regulation of IgA production is the key pathogenic pathway in IgAN. This finding confirmed a previous hypothesis that IgAN actually starts outside of the kidney; researchers hope this new information will help contribute to new treatments for the disease (2).
Clearing the path
How does Optineurin (Opt) – an autophagy receptor – remove damaged mitochondria from the brain? Well, the long-standing question has finally been answered by researchers at the Walter and Eliza Hall Institute. The team discovered that Opt uses kinase TBK1 to initiate PINK1/Parkin mitophagy, revealing an unconventional pathway of selective autophagy (3).
CRC signature
Diagnosing colorectal cancer (CRC) before it metastasizes is crucial for increasing a patient’s chance of survival. Now, after performing a whole genome-scale DNA methylation and full transcriptome analyses of primary colon tumors and liver metastases from CRC patients, researchers have discovered a new subset of loci that could be epigenetic drivers of CRC metastasis – a potential sign that cancer cells use specific methylation patterns to become more aggressive (4).
Don’t drop the balls
Elephants rarely get cancer. Why? A study has hypothesized that excessive copies of the tumor suppressor gene, TP53, is actually a result of protecting their temperature-sensitive sperm. TP53 is an active participant in germline cell division, and an elephant’s testicles do not descend because, at high temperatures, the possibility of DNA mutation is increased (5).
- A Harroud et al., Nature, [Online ahead of print] (2023). PMID: 37380766
- K Kiryluk et al, Nat Genet, [Online ahead of print] (2023). PMID: 37337107
- T N Nguyen et al., Mol Cell, 86, 1693 (2023). PMID: 37207627
- E J Rodger et al., iScience, 26 (2023). PMID: 37378317
- F Vollrath, Trends Ecol Evol (2023). PMID: 37385845
Associate Editor for the Pathologist