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Yue-Kun Qi, Ling-Yun Wu
Ribosomal proteins are key elements of protein synthesis machinery, ribosome. Besides the essential role in ribosome assembly and protein synthesis, there are lots of extraribosomal functions for ribosomal proteins, ranging from regulating cell proliferation and apoptosis to mediating DNA repair, cellular development and differentiation. Based on the typical features of hematologic system, the ribosomal proteins are related with many hematologic diseases, such as Diamond-Blackfan anemia, 5q- syndrome. In this review, the recent research progress on extraribosomal functions and related hematologic diseases are summarised...
December 2016: Zhongguo Shi Yan Xue Ye Xue za Zhi
Hiroshi Ureshino, Haruna Kizuka, Kana Kusaba, Haruhiko Sano, Atsujiro Nishioka, Takero Shindo, Yasushi Kubota, Toshihiko Ando, Kensuke Kojima, Shinya Kimura
Derivative (5;19)(p10;q10) [der(5;19)(p10;q10)] is a rare chromosomal abnormality in myelodysplastic syndrome (MDS), and is genetically similar to deletion 5q [del(5q)]. However, MDS with der(5;19)(p10;q10) and 5q- syndrome are generally characterized as distinct subtypes. Here, we report a case of a patient with 5q- syndrome-like features as the first manifestation of MDS with der(5; 19)(p10;q10). A 59-year-old woman was admitted to our hospital for anemia without leukopenia and thrombocytopenia. She had received chemotherapy comprising carboplatin and docetaxel for endometrial cancer eight years before...
December 2, 2016: International Journal of Hematology
Meaghan Wall
Cytogenetic analysis has an essential role in diagnosis, classification, and prognosis of myelodysplastic syndromes (MDS). Some cytogenetic abnormalities are sufficiently characteristic of MDS to be considered MDS defining in the appropriate clinical context. MDS with isolated del(5q) is the only molecularly defined MDS subtype. The genes responsible for many aspects of 5q- syndrome, the distinct clinical phenotype associated with this condition, have now been identified. Cytogenetics forms the cornerstone of the most widely adopted prognostic scoring systems in MDS, the international prognostic scoring system (IPSS) and the revised international prognostic scoring system (IPPS-R)...
2017: Methods in Molecular Biology
Xilong Xu, Xiufang Xiong, Yi Sun
Ribosomal proteins (RPs), the essential components of the ribosome, are a family of RNA-binding proteins, which play prime roles in ribosome biogenesis and protein translation. Recent studies revealed that RPs have additional extra-ribosomal functions, independent of protein biosynthesis, in regulation of diverse cellular processes. Here, we review recent advances in our understanding of how RPs regulate apoptosis, cell cycle arrest, cell proliferation, neoplastic transformation, cell migration and invasion, and tumorigenesis through both MDM2/p53-dependent and p53-independent mechanisms...
July 2016: Science China. Life Sciences
Jason Ear, Jessica Hsueh, Melinda Nguyen, QingHua Zhang, Victoria Sung, Rajesh Chopra, Kathleen M Sakamoto, Shuo Lin
5q-syndrome is a distinct form of myelodysplastic syndrome (MDS) where a deletion on chromosome 5 is the underlying cause. MDS is characterized by bone marrow failures, including macrocytic anemia. Genetic mapping and studies using various models support the notion that ribosomal protein S14 (RPS14) is the candidate gene for the erythroid failure. Targeted disruption of RPS14 causes an increase in p53 activity and p53-mediated apoptosis, similar to what is observed with other ribosomal proteins. However, due to the higher risk for cancer development in patients with ribosome deficiency, targeting the p53 pathway is not a viable treatment option...
May 20, 2016: Journal of Genetics and Genomics, Yi Chuan Xue Bao
S Semochkin, T Tolstykh, G Dudina, O Fink
The myelodysplastic syndromes (MDS) are a distinct group of clonal disorders of hematopoietic stem or progenitor cells characterized by ineffective hematopoiesis and peripheral cytopenias. The data on the epidemiology of MDS in Russia are absent.The aim of the study was to evaluate the incidence of MDS in adults, to evaluate methods of diagnosis confirmation and choice of therapy in the system of Moscow Health Care.The observational study included adult patients with newly diagnosed MDS in 2010. Two hundred and one adult patients (male - 110, female - 118) were registered...
March 2016: Georgian Medical News
Anna Jonášová, Libor Červinek, Petra Bělohlávková, Jaroslav Čermák, Monika Beličková, Petr Rohoň, Olga Černá, Ivana Hochová, Magda Šišková, Karla Kačmářová, Eva Janoušová
Myelodysplastic syndrome (MDS) is a common hematological disease in patients over sixty. Despite intensive research, the therapy of this heterogeneous blood disease is complicated. In recent years, two new therapeutic approaches have been proposed: immunomodulation and demethylation therapy. Immunomodulation therapy with lenalidomide represents a meaningful advance in the treatment of anemic patients, specifically those with 5q- aberrations. As much as 60-70% of patients respond and achieve transfusion independence...
December 2015: Vnitr̆ní Lékar̆ství
Yan Ma, Bo-Bin Chen, Xiao-Qin Wang, Xiao-Ping Xu, Guo-Wei Lin
OBJECTIVE: To establish a nested case-control study cohort in myelodysplastic syndrome (MDS) patients and investigate the clinical characteristics, WHO subtype and risk factors associated with MDS evolution to leukemia of this cohort. METHODS: All patients, ≥18 years of age, provided by 24 Shanghai hospitals with initial clinical findings consistent with a hematopoietic abnormality between June 2003 and April 2007, were the candidates for inclusion in this study...
December 2015: Zhongguo Shi Yan Xue Ye Xue za Zhi
Walter Arancio, Swonild Ilenia Genovese, Lucia Bongiovanni, Claudio Tripodo
In genomic deletions, gene haploinsufficiency might directly configure a specific disease phenotype. Nevertheless, in some cases no functional association can be identified between haploinsufficient genes and the deletion-associated phenotype. Transcripts can act as microRNA sponges. The reduction of transcripts from the hemizygous region may increase the availability of specific microRNAs, which in turn may exert in-trans regulation of target genes outside the deleted region, eventually contributing to the phenotype...
2015: Oncoscience
Gregor Aschauer, Richard Greil, Werner Linkesch, Thomas Nösslinger, Richard Stauder, Sonja Burgstaller, Michael Fiegl, Michael Fridrik, Michael Girschikofsky, Felix Keil, Andreas Petzer
BACKGROUND: Lenalidomide has demonstrated remarkable efficacy for therapy of lower-risk myelodysplastic syndromes (MDS) associated with 5q(-). The present evaluation aimed to describe the characteristics and outcomes of low-risk MDS patients treated with lenalidomide in Austria. PATIENTS AND METHODS: For this retrospective, multicenter, observational analysis of MDS patients who received lenalidomide, data were collected at various hospitals in Austria over a period of 3 years...
November 2015: Clinical Lymphoma, Myeloma & Leukemia
Xiao-E Jia, Ke Ma, Tao Xu, Lei Gao, Shuang Wu, Cong Fu, Wenjuan Zhang, Zhizhang Wang, Kaiyu Liu, Mei Dong, Changbin Jing, Chunguang Ren, Zhiwei Dong, Yi Chen, Yi Jin, Qiuhua Huang, Xing Chang, Min Deng, Li Li, Lingfei Luo, Jun Zhu, Yongjun Dang, Hung-Chun Chang, Leonard I Zon, Yi Zhou, Saijuan Chen, Weijun Pan
Dysregulation of ribosome biogenesis causes human diseases, such as Diamond-Blackfan anemia, del (5q-) syndrome and bone marrow failure. However, the mechanisms of blood disorders in these diseases remain elusive. Through genetic mapping, molecular cloning and mechanism characterization of the zebrafish mutant cas002, we reveal a novel connection between ribosomal dysfunction and excessive autophagy in the regulation of hematopoietic stem/progenitor cells (HSPCs). cas002 carries a recessive lethal mutation in kri1l gene that encodes an essential component of rRNA small subunit processome...
August 2015: Cell Research
Erica Bello, Andrea Pellagatti, Jacqueline Shaw, Cristina Mecucci, Rajko Kušec, Sally Killick, Aristoteles Giagounidis, Sophie Raynaud, María J Calasanz, Pierre Fenaux, Jacqueline Boultwood
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...
June 18, 2015: British Journal of Haematology
Andrea Pellagatti, Jacqueline Boultwood
The 5q- syndrome is the most distinct of the myelodysplastic syndromes (MDS) and patients with this disorder have a deletion of chromosome 5q [del(5q)] as the sole karyotypic abnormality. Several genes mapping to the commonly deleted region of the 5q- syndrome have been implicated in disease pathogenesis in recent years. Haploinsufficiency of the ribosomal gene RPS14 has been shown to cause the erythroid defect in the 5q- syndrome. Loss of the microRNA genes miR-145 and miR-146a has been associated with the thrombocytosis observed in 5q- syndrome patients...
2015: Mediterranean Journal of Hematology and Infectious Diseases
Lucia Messingerová, Anna Jonášová, Miroslav Barančik, Lenka Poleková, Mário Šereš, Lenka Gibalová, Albert Breier, Zdena Sulová
A specific type of myelodysplastic syndrome (MDS) is associated with isolated deletion on the long arm of chromosome 5, i.e., 5q-syndrome (del(5q)). The treatment approaches for MDS del(5q) include the immunomodulating drug lenalidomide (LEN). Thirteen MDS del(5q) patients were included in this study. We found elevated activities of lactate dehydrogenase (LDH) and matrix metalloproteinase 9 (MMP-9) in the blood plasma of MDS del(5q) patients as compared with healthy controls. This was stabilized to control values after LEN treatment...
October 2015: General Physiology and Biophysics
Andrea Pellagatti, Jacqueline Boultwood
Recent studies have greatly illuminated the genomic landscape of the myelodysplastic syndromes (MDS), and the pace of discovery is accelerating. The most common mutations found in MDS occur in genes involved in RNA splicing (including SF3B1, SRSF2, U2AF1, and ZRSR2) and epigenetic modification (including TET2, ASXL1, and DNMT3A). The identification of spliceosome mutations in approximately half of all patients with MDS implicates abnormalities of RNA splicing, a pathway not previously known as a target for mutation, in the MDS pathogenesis...
July 2015: European Journal of Haematology
Rui Gao, Sisi Chen, Michihiro Kobayashi, Hao Yu, Yingchi Zhang, Yang Wan, Sara K Young, Anthony Soltis, Ming Yu, Sasidhar Vemula, Ernest Fraenkel, Alan Cantor, Yevgeniy Antipin, Yang Xu, Mervin C Yoder, Ronald C Wek, Steven R Ellis, Reuben Kapur, Xiaofan Zhu, Yan Liu
While Polycomb group protein Bmi1 is important for stem cell maintenance, its role in lineage commitment is largely unknown. We have identified Bmi1 as a novel regulator of erythroid development. Bmi1 is highly expressed in mouse erythroid progenitor cells and its deficiency impairs erythroid differentiation. BMI1 is also important for human erythroid development. Furthermore, we discovered that loss of Bmi1 in erythroid progenitor cells results in decreased transcription of multiple ribosomal protein genes and impaired ribosome biogenesis...
March 2015: Stem Cells
Antonella Zagaria, Nicoletta Coccaro, Giuseppina Tota, Luisa Anelli, Angela Minervini, Paola Casieri, Angelo Cellamare, Crescenzio Francesco Minervini, Claudia Brunetti, Alessandra Ricco, Paola Orsini, Cosimo Cumbo, Giorgina Specchia, Francesco Albano
Patients affected by monoclonal gammopathy of undetermined significance (MGUS) very rarely develop a myelodysplastic syndrome (MDS). However, it was also demonstrated that MGUS patients had a significantly increased risk of developing MDS compared to the general population. We report a case of 5q-syndrome following a MGUS IgMk with mutation of MYD88 L256P. To our knowledge, this is the first case of del(5q) MDS following MGUS IgMk with the MYD88 L256P mutation in which there is coexistence of the markers of the two clonal diseases, but as an expression of distinct pathological features...
January 2015: Blood Cells, Molecules & Diseases
Anupama Narla, Elspeth M Payne, Nirmalee Abayasekara, Slater N Hurst, David M Raiser, A Thomas Look, Nancy Berliner, Benjamin L Ebert, Arati Khanna-Gupta
Haploinsufficiency of ribosomal proteins (RPs) and upregulation of the tumour suppressor TP53 have been shown to be the common basis for the anaemia observed in Diamond Blackfan anaemia and 5q- myelodysplastic syndrome. We previously demonstrated that treatment with L-Leucine resulted in a marked improvement in anaemia in disease models. To determine if the L-Leucine effect was Tp53-dependent, we used antisense MOs to rps19 and rps14 in zebrafish; expression of tp53 and its downstream target cdkn1a remained elevated following L-leucine treatment...
November 2014: British Journal of Haematology
Shuang Li, Rong Fan, Xiao-Li Zhao, Xiao-Qin Wang
OBJECTIVE: The CXXC domain protein 4 (CXXC4) functions as a negative regulator of Wnt signaling and also regulates expression of the ten-eleven translocation 2 (TET2) protein for DNA methylation. This study detected levels of CXXC4 and TET2 mRNA to determine their association with survival of patients with myelodysplastic syndrome (MDS). METHODS: Levels of TET2 and CXXC4 mRNA were analyzed in bone marrow samples from 154 MDS patients and 50 control subjects using qRT-PCR and subsequently associated these levels with clinicopathological characteristics and survival of MDS patients...
September 2014: Leukemia Research
Pasquale Niscola, Andrea Tendas, Laura Scaramucci, Roberta Merola, Gianfranco Catalano, Paolo de Fabritiis
No abstract text is available yet for this article.
June 2014: Blood Research
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