Usher syndrome is the most common cause of deaf-blindness. Mutations in the protocadherin-15 (PCDH15) gene cause Usher syndrome type 1 F (USH1F), which makes up about 3-11% of all Usher syndrome cases. As a component of tip links of the inner ear hair cells, PCDH15 binds to cadherin-23 (CDH23) to convey force from sound stimuli to the mechanosensory transduction channels.

Losing the tail to survive. In neurons, the lizard’s strategy, losing the axon to be safe, could prevent cell death. Scientists at Harvard Medical School have observed that certain toxins activated axon loss to prevent damage and survive. This mechanism was mediated by the Gasdermin-E (GSDME) protein, which destroyed the mitochondria in the axons and eliminated the affected nerve projection before the cell died. The inhibition of GSDME prevented the loss of neurons and delayed the progression of amyotrophic lateral sclerosis (ALS) in mice models.

Researchers from the Brigham and Women’s Hospital and Harvard Medical School and collaborators recently conducted a study investigating the regulation of immune checkpoint molecules in cancer. Analyzing data from The Cancer Genome Atlas pan-cancer cohort (over 10,000 patients and 11,000 samples across 34 different cancer subtypes), they found that high expression of the immune checkpoint B7-H3 (CD276) and high mTORC1 activity correlate with immunosuppressive phenotypes and worse clinical outcomes.

Researchers at the Dana-Farber Cancer Institute have been able to identify proteins that were released from muscles during exercise in relatively small quantities. Using their method, the team was able to demonstrate that the neurotrophic factor prosaposin was produced during exercise. Prosaposin is “a well-known CNS neurotrophic factor, but has never been seen to come out of muscle or fat,” Bruce Spiegelman told BioWorld. Spiegelman is a researcher at the Dana-Farber Cancer Institute and Stanley J. Korsmeyer Professor of Cell Biology and Medicine at Harvard Medical School.

TANK-binding kinase 1 (TBK1) is a multifunctional serine/threonine kinase with an established role coordinating innate immune responses, and it has been previously identified as a candidate immune evasion gene. Additionally, disrupting TBK1 signaling has shown potential for enhancing response to immunotherapy with immune checkpoint blockade (ICB) in murine tumor models.

“Short-lived organisms represent a fundamentally different evolutionary strategy, and the idiosyncrasies influencing their aging may not apply to longer-lived models, including humans,” researchers from Harvard Medical School wrote in the Jan. 11, 2023, issue of Science Advances.

In their paper, the authors reported insights into the genomics of longevity that took advantage of an unusual animal model: rockfish.