# Expression of Hormones’ Receptors in Human Corneal Endothelium from Fuchs’ Dystrophy: A Possible Gender’ Association

**Authors:** Maria De Piano, Irene Abicca, Valentin Dinu, Anna Maria Roszkowska, Alessandra Micera, Domenico Schiano-Lomoriello

PMC · DOI: 10.3390/jcm13133787 · 2024-06-27

## TL;DR

This study explores how hormone receptors and other proteins are expressed in corneal tissues affected by Fuchs dystrophy, finding gender-specific patterns that could lead to new treatment approaches.

## Contribution

The study identifies gender-specific differences in hormone receptor and immune pathway expression in Fuchs dystrophy, offering new insights for potential therapies.

## Key findings

- ERα transcripts were significantly increased in female Fuchs dystrophy patients.
- MMP1 was highly expressed in male Fuchs specimens, while MMP7 was low.
- Female patients showed higher IFNγ expression, suggesting a Th1 immune response.

## Abstract

Background: Age and sex are the most significant risk of factors for advanced Fuchs dystrophy. Nevertheless, few data are available on the hormone’s receptor pattern expressed in adult and advanced fuchs endothelial corneal dystrophy (FECD). We investigated the impact of gender, growth factors and extracellular matrix (ECM) regulatory proteins expressed by the dystrophic endothelia. Methods: Ten dystrophic endothelial tissues and 10 normal endothelial sheets (corneoscleral specimens; Eye Bank) were used for this characterization study. Hormones’ receptors (ERα, AR, PR, SHBG), few growth factors (VEGFA, βNGF, TGFβ1), some ECM regulators (MMP1, MMP7) and few inflammatory cytokines (IFNγ, IL10) were analyzed by real-time RT-PCR. Results: ERα transcripts were significantly increased, AR and SHBG transcripts were decreased in Fuchs endothelia from female patients, and no changes were detected for PR transcripts. VEGFA, βNGF and TGFβ1 transcripts were upregulated in Fuchs’ endothelia, but not significantly linked to gender. High MMP1 and low MMP7 transcripts’ expression were detected in Fuchs’ specimens, mainly in males than females. An increased IFNγ (Th1) transcript expression was observed in females than males, and a trend to increase for IL10 (Th2) transcripts was detected in males than females. Conclusions: Our findings clearly indicate that hormone receptors, growth factors and matrix mediators as well as a Th1 pathway are predominant in Fuchs’ dystrophy, displaying a pattern of expression specific for the female phenotype. The differential expression of hormones’ receptors and the Th1/Th2 ratio might prompt to new theories to be tested in vitro and in vivo models, such as the use of hormonal substitute for counteracting this endothelial cell lost.

## Linked entities

- **Genes:** ESR1 (estrogen receptor 1) [NCBI Gene 2099], AR (androgen receptor) [NCBI Gene 367], PGR (progesterone receptor) [NCBI Gene 5241], SHBG (sex hormone binding globulin) [NCBI Gene 6462], VEGFA (vascular endothelial growth factor A) [NCBI Gene 7422], TGFB1 (transforming growth factor beta 1) [NCBI Gene 7040], MMP1 (matrix metallopeptidase 1) [NCBI Gene 4312], MMP7 (matrix metallopeptidase 7) [NCBI Gene 4316], IFNG (interferon gamma) [NCBI Gene 3458], IL10 (interleukin 10) [NCBI Gene 3586]

## Full-text entities

- **Genes:** NGF (nerve growth factor) [NCBI Gene 4803] {aka Beta-NGF, HSAN5, NGFB}, IFNG (interferon gamma) [NCBI Gene 3458] {aka IFG, IFI, IMD69}, TGFB1 (transforming growth factor beta 1) [NCBI Gene 7040] {aka CAEND1, CED, DPD1, IBDIMDE, LAP, TGF-beta1}, SHBG (sex hormone binding globulin) [NCBI Gene 6462] {aka ABP, SBP, TEBG}, MMP7 (matrix metallopeptidase 7) [NCBI Gene 4316] {aka MMP-7, MPSL1, PUMP-1}, PGR (progesterone receptor) [NCBI Gene 5241] {aka NR3C3, PR}, IL10 (interleukin 10) [NCBI Gene 3586] {aka CSIF, GVHDS, IL-10, IL10A, TGIF}, MMP1 (matrix metallopeptidase 1) [NCBI Gene 4312] {aka CLG}, VEGFA (vascular endothelial growth factor A) [NCBI Gene 7422] {aka L-VEGF, MVCD1, VEGF, VPF}, ESR1 (estrogen receptor 1) [NCBI Gene 2099] {aka ER, ESR, ESRA, ESTRR, Era, NR3A1}
- **Diseases:** endothelial corneal dystrophy (MESH:C536439), FECD (MESH:D005642)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Figures

4 figures with captions in the complete paper: https://tomesphere.com/paper/PMC11242089/full.md

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Source: https://tomesphere.com/paper/PMC11242089