# Autophagy Dysregulation in Crohn’s Disease and Colorectal Cancer—An Analysis of BECN1, PINK1, and LAMP2 Gene Expression

## TL;DR

This study shows that autophagy is disrupted in Crohn’s disease and colorectal cancer, with specific changes in the expression of key genes.

## Contribution

The study identifies specific gene expression patterns in autophagy-related genes in Crohn’s disease and colorectal cancer.

## Key findings

- BECN1 and LAMP2 gene expression was significantly decreased in both Crohn’s disease and colorectal cancer.
- PINK1 gene expression was significantly higher in Crohn’s disease compared to colorectal cancer and controls.
- CRC clinical stages did not significantly affect the expression of the analyzed genes.

## Abstract

Crohn’s disease (CD) and colorectal cancer (CRC) are clinically distinct but pathogenetically related conditions in which significant abnormalities in autophagy are observed. The aim of the study was to evaluate the expression of three key autophagy-related genes, i.e., BECN1 (macroautophagy), PINK1 (mitophagy), and LAMP2 (chaperone-mediated autophagy) in tissue samples from patients with CD and CRC. The study material included samples from 48 patients with CD (n = 96 biopsy samples) and 87 patients with CRC (n = 87 tumors; n = 87 normal paired controls). Transcriptomic analyses were performed using Affymetrix HG-U133A microarrays. They were confirmed by RT-qPCR. The Kruskal–Wallis test with Dunn’s post hoc analysis (α = 0.05) and Spearman’s correlation coefficients were used for statistical evaluation. Expression of BECN1 and LAMP2 was significantly decreased in both CD and CRC compared to the controls (p = 0.009; p = 0.023, respectively). However, PINK1 showed significantly higher expression levels in CD compared to CRC and the controls (p < 0.001). The clinical stages of CRC (I–IV) did not significantly affect the expression of the analyzed genes. The study findings confirm the presence of common abnormalities in autophagy in CD and CRC, with decreased macroautophagy and chaperone-mediated autophagy, with the compensatory activation of mitophagy. BECN1, PINK1, and LAMP2 expressions may have a diagnostic and therapeutic value in the context of chronic inflammation and colorectal carcinogenesis.