Rare disease gene variant shortened lifespan in mice
Males carrying the variant died or underwent humane euthanasia at 28 to 85 weeks, versus 71 to 100 weeks in unmodified males.
Limit: Survival included euthanasia at humane endpoints, not just natural death
Edited by Boris Djordjevic · AgingResearch.News
Researchers engineered mice on a C57BL/6 background to carry two copies of a gene variant found in Nakajo-Nishimura syndrome, a rare inherited inflammatory disease. This animal experiment targeted Psmb8, a gene encoding part of cells’ protein-breakdown machinery.
Compared with unmodified mice, the altered mice had shorter lifespans in both sexes. From 30 weeks onward, they gained less weight. In old mice, fat cells tended to be smaller, with immune cells and inflammatory signaling in fat tissue. In the spleen, activity of one form of the protein-breakdown machinery fell, while another form retained its activity. The authors proposed these mice as a model for studying the disease and testing candidate drugs.
Why it matters
By modeling an inherited inflammatory disease with features resembling premature aging, the mice may help researchers investigate disease-related changes in fat tissue and lifespan.
Caveats
The survival measure included euthanasia at predefined humane endpoints, not just natural death. The mice reproduced some disease features, but their protein-breakdown defects differed from those in patients.
The paper
Wakayama Medical University; Hyogo Medical University
Scientific Reports, May 28, 2026, Open access
