title: Abnormal expression of C3ORF9 gene in patients with myelodysplastic syndromes.
abstract: Myelodysplastic Syndrome (MDS) cells present genetic instability and dysregulation of the gene C3ORF9, which was isolated from an MDS cDNA library and codes for a putative protein. We studied the expression of C3ORF9 in MDS syndromes to contribute to the understanding of the pathophysiology of MDS. One hundred and thirty-one patients and 35 healthy controls were involved in our study. Bone marrow aspirates and isolated CD34+ cells were used. Gene expression was estimated by quantitative PCR. C3ORF9 was found to be down-regulated in patients with CMML compared to the controls (p<0.01). There was no difference between RARS and the controls (p=0.1), while increased expression was found in RA, RAEB and RAEB-T (p<0.01 for all). No mutations or polymorphism were detected in our population. CD34+ cells expressed higher levels of C3ORF9 (p<0.01) in patients. The gene expression was correlated to the percentage of +cells in RAEB and RAEB-T (r=0.64). The altered C3ORF9 expression was possibly due to different gene regulation in these patients and/or to the increased CD34+ cells.
authors.affiliation: University Hospital of Larisa, Medical School, University of Thessalia, Greece.
authors.forename: A-V
authors.initials: AV
authors.lastname: Karadonta
authors.forename: M G
authors.initials: MG
authors.lastname: Alexandrakis
authors.forename: T V
authors.initials: TV
authors.lastname: Kourelis
authors.forename: A
authors.initials: A
authors.lastname: Manola
authors.forename: K
authors.initials: K
authors.lastname: Garlemou
authors.forename: N E
authors.initials: NE
authors.lastname: Stathakis
authors.forename: D
authors.initials: D
authors.lastname: Kyriakou
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D018952:Antigens, CD34 / Q000032:analysis; D001854:Bone Marrow Cells / Q000737:chemistry* / Q000276:immunology; D016022:Case-Control Studies; D002869:Chromosome Aberrations; D004252:DNA Mutational Analysis; D005260:Female; D005786:Gene Expression Regulation; D005964:Glucosyltransferases; D006801:Humans; D007621:Karyotyping; D008297:Male; D008875:Middle Aged; D009190:Myelodysplastic Syndromes / Q000235:genetics* / Q000276:immunology / Q000378:metabolism; D011506:Proteins / Q000235:genetics* / Q000378:metabolism; D020133:Reverse Transcriptase Polymerase Chain Reaction
chemical_list: D018952:Antigens, CD34; D011506:Proteins; D005964:Glucosyltransferases; C510651:POGLUT1 protein, human