PIPages
Labs

Xiaohua Gong

University of California-Berkeley, CA·Genetics

Cataracts, a clouding of the eye's lens, are the leading cause of blindness worldwide. Surgery is the only effective treatment.

Fields

Genetics

Biology

Medicine & Clinical Research

Topics

cataract

eye lens

connexin 46

Grants
1 known grant, through Apr 2027

What they work on

  1. Determine how variants of three modifier genes, Prx (periaxin), Bfsp2 (the lens filament protein phakinin) and PKIG (a PKA inhibitor), change the severity of age-related nuclear cataracts in connexin 46 knockout mice of different strains.
  2. Test whether liquid-liquid phase separation, the condensing of proteins into droplets, in membrane-associated protein complexes is an early step in lens protein aggregation and cataract formation.
  3. Identify the proteins and cell structures that cause lens light scattering, using live adaptive optics two-photon microscopy and TMT-based quantitative mass spectrometry.
  4. Determine how calcium and cAMP-PKA signaling through lens gap junction channels regulate these protein complexes, and test whether manipulating these signals delays cataract formation in vitro.

More about the research

Genes, harmful environmental exposures, disease and aging can all set off changes in lens cells that scatter light and cloud vision. Even in mice with the same cataract-causing mutation, cataracts can be much more or less severe depending on the strain. This points to modifier genes, which change how strongly another gene's effect shows.

Why it matters

Cataracts blind millions of people, and there is no effective non-surgical treatment. By showing how modifier genes and calcium and cAMP signals drive protein clumping in the lens, this work could point to ways to delay, prevent or treat cataracts without surgery.

Known grants

From NIH and NSF research grants. Labs often have other funding we can't see.

Cataractogenesis, Connexin Mutants and Genetic Modifier(s)

NIH · Feb 2002 – Apr 2027

Closest labs

Julia Von Blume

Yale University, CT·Biology

Define the molecular requirements for chromogranins and Cab45 to form liquid condensates by liquid-liquid phase separation, using reconstituted systems that mimic the chemical environment inside the trans-Golgi Network.

Priya R. Banerjee

University at Buffalo, NY·Biophysics·Early-career

Test whether pioneer transcription factors, proteins that can bind DNA packed into closed chromatin, act by forming liquid-like droplets on DNA that concentrate RNA polymerases and nucleosome-remodeling complexes to switch genes on.

Joseph Palatinus

University of Utah, UT·Medicine & Clinical Research·Early-career

Test whether disorganized actin, the cell's internal scaffolding, causes the gap junction trafficking defects seen in the Desmoglein 2 (DSG2) mutant model of arrhythmogenic cardiomyopathy, using confocal and electron microscopy and proximity ligation labeling.

The school

University of California-Berkeley: 46 labs on PI Pages, $1.1B a year on research, 825 research doctorates a year.

More about University of California-Berkeley

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