Variants of the mitochondrial displacement loop in patients with myelodysplastic syndromes

Abstract

OBJECTIVE Some mtDNA mutations have been detected in patients with myelodysplastic syndromes (MDSs). As the noncoding region of mitochondria, the displacement loop (D-loop) region of mtDNA contains important elements for mtDNA replication and transcription. Variants of the D-loop region were found to be related to the cause of many diseases. The aim of our study was to investigate mutations and single nucleotide polymorphisms in the D-loop region of MDS patients. METHODSThe mutations and SNPs in the hypervariable regions of the D-loop were detected by direct sequencing in MDS patients and normal controls. RESULTS Sixty-four SNPs were found in the D-loop region in MDS cases and control group. Among the SNPs, the 16,189 variant (T > C transition) was found to have an increased frequency in the MDS group (P = 0.044). However, no mutations were detected in neither group. CONCLUSIONOur data provide evidence for a highly polymorphic D-loop region in patients with MDS, but do not support the presence of mutations in the mitochondrial D-loop region in MDS cases. The mtDNA T16,189C variant, which may be a functional variant, is associated with increased susceptibility to a MDS.