This Research Insight covers a recent publication from the Siegfried Lab. Here, we highlight how Ying-Bo Shui, MD, PhD and colleagues identified a gene that might exacerbate the worse primary open-angle glaucoma presentation experienced by Black individuals.
In their recent paper published in Scientific Reports, scientists in the lab of Carla Siegfried, MD, professor of ophthalmology at WashU Medicine, investigate how differences in gene and protein expression in the trabecular meshwork (TM) of the eye might contribute to racial disparities in primary open-angle glaucoma (POAG). POAG is a neurodegenerative disease of the eye, that disproportionately affects Black individuals with earlier onset, faster progression, and higher prevalence than White individuals.
Disparate protein expression might contribute to disease severity
RNA sequencing and PCR analyses of TM tissue from patients that underwent POAG surgical intervention revealed a tissue-specific reduction in SDPR (serum deprivation protein response; Cavin 2) gene expression in Black compared to White patients. SDPR is a key regulator of caveolar structures in the plasma membrane of cells in the TM, which are altered in POAG and thought to regulate intraocular pressure – a leading risk factor of POAG.
The authors probed whether SDPR expression levels correlated with POAG disease status by comparing patient surgical samples to healthy eye donor tissue. PCR analyses of the TM revealed that both Black and White POAG patients exhibited lower tissue-specific SDPR gene expression than healthy donors. While there was no apparent difference in the SDPR gene expression levels between healthy Black and White donors, Black donors showed a highly localized decrease in SDPR protein expression relative to White donors.
Together, these results suggest that lowered SDPR expression might exacerbate TM dysfunction and increased intraocular pressure that can in turn lead to earlier and more severe POAG progression in Black patients.