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Updated: Apr 3, 2026
Database-guided Flow-cytometry for Evaluation of Bone Marrow Myeloid Cell Maturation
Published on: November 3, 2018
Differential expression of ribosomal proteins in myelodysplastic syndromes
Elizabeth B Rinker1, Julie C Dueber2, Julianne Qualtieri3
1Department of Pathology, Microbiology, and Immunology, Vanderbilt University Medical Center, Nashville, Tennessee, USA Department of Pathology, Louisiana State University Health Sciences Center, New Orleans, Louisiana, USA.
Abstract:
Aberrations of ribosomal biogenesis have been implicated in several congenital bone marrow failure syndromes, such as Diamond-Blackfan anaemia, Shwachman-Diamond syndrome and Dyskeratosis Congenita. Recent studies have identified haploinsufficiency of RPS14 in the acquired bone marrow disease isolated 5q minus syndrome, a subtype of myelodysplastic syndromes (MDS). However, the expression of various proteins comprising the ribosomal subunits and other proteins enzymatically involved in the synthesis of the ribosome has not been explored in non-5q minus MDS. Furthermore, differences in the effects of these expression alterations among myeloid, erythroid and megakaryocyte lineages have not been well elucidated. We examined the expression of several proteins related to ribosomal biogenesis in bone marrow biopsy specimens from patients with MDS (5q minus patients excluded) and controls with no known myeloid disease. Specifically, we found that there is overexpression of RPS24, DKC1 and SBDS in MDS. This overexpression is in contrast to the haploinsufficiency identified in the congenital bone marrow failure syndromes and in acquired 5q minus MDS. Potential mechanisms for these differences and aetiology for these findings in MDS are discussed.
Insights
Aberrations in ribosomal biogenesis are linked to bone marrow failure. In myelodysplastic syndromes (MDS), unlike other conditions, researchers found overexpression of specific ribosomal proteins (RPS24, DKC1, SBDS).
Area of Science:
- Hematology
- Molecular Biology
- Oncology
Background:
- Ribosomal biogenesis defects are implicated in congenital bone marrow failure syndromes.
- Haploinsufficiency of RPS14 is known in acquired 5q minus myelodysplastic syndromes (MDS).
- Expression of ribosomal proteins in non-5q minus MDS and lineage-specific effects remain underexplored.
Purpose of the Study:
- To investigate ribosomal biogenesis protein expression in MDS excluding the 5q minus subtype.
- To compare expression patterns with congenital bone marrow failure syndromes and 5q minus MDS.
- To elucidate lineage-specific effects of these expression alterations.
Main Methods:
- Analysis of bone marrow biopsy specimens from MDS patients (excluding 5q minus) and healthy controls.
- Examination of expression levels for various ribosomal biogenesis proteins.
Main Results:
- Overexpression of RPS24, DKC1, and SBDS was observed in MDS patients.
- This contrasts with the haploinsufficiency reported in congenital syndromes and 5q minus MDS.
- Findings suggest distinct molecular mechanisms in different MDS subtypes.
Conclusions:
- MDS exhibits unique alterations in ribosomal protein expression compared to other bone marrow failure syndromes.
- Overexpression of RPS24, DKC1, and SBDS may contribute to MDS pathogenesis.
- Further research is needed to understand the mechanisms and lineage-specific impacts.
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