Abstract
Purpose :
To evaluate the presence of mtDNA variants in Polish normal tension glaucoma patients by whole mitochondrial genome sequencing.
Methods :
The studied group consisted of 100 Caucasian patients with normal-tension glaucoma and 94 control patients. The mtDNA was isolated from the whole blood and the entire human mitochondrial genome was amplified by long-range polymerase chain reaction and used as a template for high-throughput next generation sequencing on the Illumina MiSeq platform. Secondary sequencing data analysis was performed using CLC Genomics Workbench bioinformatic software and the identified mtDNA variants were interpreted based on their frequencies and reports in databases and the literature. All mtDNA variants were evaluated and classified in terms of clinical significance using in silico predictive algorithms and mtDNA databases with established parameters and elaborated filtering strategy.
Results :
. In NTG group 2553 mtDNA variants were observed with 2276 transitions, 68 transversions, 158 insertions and 51 deletions. In this group 159 rare mtDNA variants were present in 73 patients, including 39 novel variants (1.5%). In control group 2545 mtDNA variants were present with 2352 transitions, 73 transversions, 78 insertions and 42 deletions. 138 rare mtDNA variants in 69 patients, including 33 novel variants (1.3%) were detected. In NTG group mtDNA variants were observed in rRNAs in 15,28% patients, in tRNAs in 2,82%, in Complex I in 22,72% , in CIII in 10,65%, in CIV in 6,97% , in CV in 6,74% patients. In control group mtDNA variants were present in rRNAs in 14.38% patients, in tRNAs in 3.04%, in CI in 23.97%, in CIII in 10,09% patients, in CIV in 7.91%, in CV in 6,04% controls. There were no significant differences in the number and distribution of mtDNA variants between both studied groups.
Conclusions :
Mitochondrial DNA do not differ between normal tension glaucoma and control Polish patients regarding the number and distribution of variants.
This is an abstract that was submitted for the 2017 ARVO Annual Meeting, held in Baltimore, MD, May 7-11, 2017.