How connexin mutations and other genes cause cataracts
Cataractogenesis, Connexin Mutants and Genetic Modifier(s)
['FUNDING_R01'] · UNIVERSITY OF CALIFORNIA BERKELEY · NIH-11225649
This project looks at how changes in a lens protein called connexin and other genes lead to age-related nuclear cataracts, using advanced imaging and molecular tools to learn more for people at risk.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | UNIVERSITY OF CALIFORNIA BERKELEY (nih funded) |
| Locations | 1 site (BERKELEY, UNITED STATES) |
| Trial ID | NIH-11225649 on ClinicalTrials.gov |
What this research studies
If you or a family member has an inherited or age-related cataract, this work aims to explain why some lenses cloud earlier or more severely. Researchers will use mice missing the lens protein connexin 46 and compare different genetic backgrounds to see how other genes change cataract risk. They will image living lenses with adaptive two-photon fluorescence microscopy and measure protein changes with TMT mass spectrometry to detect early molecular events like liquid–liquid phase separation. Understanding these molecular and cellular steps could point to new ways to prevent or slow cataract development in people.
Who could benefit from this research
Good fit: Most relevant are people with inherited connexin-related cataracts, a family history of early cataracts, or progressive age-related nuclear cataracts.
Not a fit: People with cataracts caused by trauma, infection, or those who need immediate lens replacement surgery are less likely to benefit directly from this basic research.
Why it matters
Potential benefit: If successful, the findings could reveal biomarkers or drug targets that help prevent or slow certain genetic and age-related cataracts.
How similar studies have performed: Previous animal work has linked connexin defects and genetic modifiers to cataracts, but combining high-resolution in vivo imaging and LLPS-focused molecular analysis is relatively new.
Where this research is happening
BERKELEY, UNITED STATES
- UNIVERSITY OF CALIFORNIA BERKELEY — BERKELEY, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: GONG, XIAOHUA — UNIVERSITY OF CALIFORNIA BERKELEY
- Study coordinator: GONG, XIAOHUA
About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page below.