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Published on: September 20, 2016
CSNK1A1 mutations and gene expression analysis in myelodysplastic syndromes with del(5q)
Erica Bello1,2, Andrea Pellagatti1,2, Jacqueline Shaw1,2
1LLR Molecular Haematology Unit, Nuffield Division of Clinical Laboratory Sciences, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.
Abstract:
Mutations of CSNK1A1, a gene mapping to the commonly deleted region of the 5q- syndrome, have been recently described in patients with del(5q) myelodysplastic syndromes (MDS). Haploinsufficiency of Csnk1a1 in mice has been shown to result in β-catenin activation and expansion of haematopoietic stem cells (HSC). We have screened a large cohort of 104 del(5q) MDS patients and have identified mutations of CSNK1A1 in five cases (approximately 5%). We have shown up-regulation of β-catenin target genes in the HSC of patients with del(5q) MDS. Our data further support a central role of CSNK1A1 in the pathogenesis of MDS with del(5q).
Insights
Mutations in the CSNK1A1 gene are found in some patients with 5q- syndrome, a type of myelodysplastic syndrome (MDS). This gene
Area of Science:
- Hematology
- Molecular Biology
- Genetics
Background:
- The 5q- syndrome is characterized by a deletion on the long arm of chromosome 5.
- CSNK1A1 gene mutations have been linked to myelodysplastic syndromes (MDS).
- Haploinsufficiency of CSNK1A1 in mice leads to beta-catenin activation and hematopoietic stem cell (HSC) expansion.
Purpose of the Study:
- To investigate the frequency and role of CSNK1A1 mutations in del(5q) MDS patients.
- To explore the impact of CSNK1A1 mutations on beta-catenin signaling in del(5q) MDS.
Main Methods:
- Screening of CSNK1A1 gene in a cohort of 104 del(5q) MDS patients.
- Analysis of beta-catenin target gene expression in HSC from del(5q) MDS patients.
Main Results:
- CSNK1A1 mutations were identified in approximately 5% of the studied del(5q) MDS patients.
- Upregulation of beta-catenin target genes was observed in HSC from patients with del(5q) MDS.
- These findings suggest CSNK1A1 plays a role in the pathogenesis of del(5q) MDS.
Conclusions:
- CSNK1A1 mutations are present in a subset of del(5q) MDS patients.
- The study supports a role for CSNK1A1 in the development of del(5q) MDS.
- Beta-catenin pathway activation is implicated in the pathogenesis of this condition.
