Variants of the mitochondrial displacement loop in patients with myelodysplastic syndromes

Abstract

Some mtDNA mutations have been detected in patients with myelodysplastic syndromes (MDSs). As the non-coding 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. The mutations and SNPs in the hypervariable regions of the D-loop were detected by direct sequencing in MDS patients and normal controls. 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. Our 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.