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Subspecialties Oncology, Genetics and epigenetics

Research Roundup

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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).

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  1. A Harroud et al., Nature, [Online ahead of print] (2023). PMID: 37380766
  2. K Kiryluk et al, Nat Genet, [Online ahead of print] (2023). PMID: 37337107
  3. T N Nguyen et al., Mol Cell, 86, 1693 (2023). PMID: 37207627
  4. E J Rodger et al., iScience, 26 (2023). PMID: 37378317
  5. F Vollrath, Trends Ecol Evol (2023). PMID: 37385845
About the Author
Georgia Hulme

Associate Editor for the Pathologist

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