Biomarker for Identifying Human Exposure to Environmental Hazards and Risk Assessment Method Using the Same

Biomarker for Identifying Exposure to Environmental Hazards Based on Transcript Splicing Variants

This technology identifies exposure to environmental hazards and assesses risk levels by using the alternative splicing patterns of gene transcripts that change upon exposure as indicators. It utilizes intron retention in the TDRD12 transcript as a primary marker, supplemented by changes in other gene transcripts.

Conventional biological impact assessments have focused on observing cytotoxicity by exposing cell lines or animal models to high concentrations of substances. There has been a lack of established methods for determining the risks associated with long-term, low-concentration exposure in organs such as the eyes, lungs, and liver.

This technology detects subtle molecular-level changes before they manifest as cytotoxicity by reading both the increase in intron retention and transcript isoform changes compared to a normal control group. It can be applied to safety assessments for ingredients in cosmetics and household chemical products, environmental health monitoring, and exposure screening services, enabling an indicator system for the early detection of chronic, low-concentration exposure.

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Key Features:

• Detecting alternative splicing variants of the TDRD12 gene transcript in a biological sample provided by a subject
• Additionally detecting alternative splicing variants of gene transcripts selected from FUS, CETN3, HNRNPD, CRNDE, ENO1, MYL12B, and HNRNPA1
• Identifying splicing variants by detecting intron retention in intron 21 of the TDRD12 gene transcript
• Determining that the subject has been exposed to environmental hazards if the amount of intron retention is higher than that of an unexposed normal control group

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This invention was developed with support from the Ministry of Environment for identifying mechanisms of environmental diseases through multidimensional omics analysis.

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