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Published on: September 17, 2019
Transcriptomic Profiling of Monozygotic Twins with Type 1 Gaucher Disease
Aslı İnci1,2, Sümeyye Aydoğdu Demirel1, Filiz Başak Cengiz Ergin1
1Department of Pediatric Nutrition and Metabolism, School of Medicine, Gazi University, Ankara 06500, Türkiye.
Life (Basel, Switzerland)
|May 27, 2026
Summary
Transcriptomic analysis of Gaucher disease (GD) twins revealed differences in gene expression, suggesting non-genetic factors influence disease severity. Further research into epigenetic and environmental influences is warranted for understanding GD variability.
Area of Science:
- Genomics
- Molecular Biology
- Systems Biology
Background:
- Gaucher disease (GD) is caused by pathogenic variants in the GBA1 gene.
- Clinical presentation of GD is highly variable and cannot be fully explained by genotype alone.
Purpose of the Study:
- To investigate transcriptomic factors contributing to differential clinical outcomes in genetically identical Gaucher disease twins.
- To explore potential non-genetic influences on Gaucher disease manifestation.
Main Methods:
- RNA sequencing of macrophages derived from Gaucher disease twins and age-matched controls.
- Bioinformatic analysis of gene expression data.
- Validation of key gene expression changes using quantitative real-time PCR (qRT-PCR).
Main Results:
- Both Gaucher disease twins exhibited a shared transcriptional signature indicative of immune activation and lysosomal stress.
- Exploratory analysis suggested differences in interferon-responsive transcripts and small nucleolar RNA clusters between the twins.
- qRT-PCR partially supported trends of increased expression for stress- and immune-related genes in patients.
Conclusions:
- Transcriptomic differences, beyond identical GBA1 mutations, may contribute to Gaucher disease clinical variability.
- Epigenetic or environmental factors could play a significant role in Gaucher disease pathogenesis.
- Transcriptomic profiling offers a promising approach for generating hypotheses about disease heterogeneity.
