• Asian Pacific Journal of Cancer Prevention
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• v.15 no.23
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• pp.10433-10438
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• 2015

Background: Acute lymphoblastic leukemia (ALL) is the most common cancer diagnosed in children and represents approximately 25% of cancer diagnoses among those younger than 15 years of age. Aim and Objectives: This study investigated substitutions in the ATP synthase subunit 6 gene of mitochondrial DNA (mtDNA) as a potential diagnostic biomarker for early detection and diagnosis of acute lymphoblastic leukemia. Based on mtDNA from 23 subjects diagnosed with acute lymphoblastic leukemia, approximately 465 bp of the ATP synthase subunit 6 gene were amplified and sequenced. Results: The sequencing revealed thirty-one mutations at 14 locations in ATP synthase subunit 6 of mtDNA in the ALL subjects. All were identified as single nucleotide polymorphisms (SNPs) with a homoplasmic pattern. The mutations were distributed between males and females. Novel haplotypes were identified in this investigation: haplotype (G) was recorded in 34% in diagnosed subjects; the second haplotype was (C) with frequency of 13% in ALL subjects. Neither of these were observed in control samples. Conclusions: These haplotypes were identified for the first time in acute lymphoblastic leukemia patients. Five mutations able to change amino acid synthesis for the ATP synthase subunit 6 were associated with acute lymphoblastic leukemia. This investigation could be used to provide an overview of incidence frequency of acute lyphoblastic leukemia (ALL) in Saudi patients based on molecular events.

• Journal of Genetic Medicine
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• v.12 no.2
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• pp.109-117
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• 2015

Purpose: Mitochondrial diseases are clinically and genetically heterogeneous disorders, which make their exact diagnosis and classification difficult. The purpose of this study was to identify pathogenic mitochondrial DNA (mtDNA) mutations in 2 Korean families with myoclonic epilepsy with ragged-red fibers (MERRF) and Leigh syndrome, respectively. Materials and Methods: Whole mtDNAs were sequenced by the method of mtDNA-targeted next-generation sequencing (NGS). Results: Two causative mtDNA mutations were identified from the NGS data. An m.8344A>G mutation in the tRNA-Lys gene (MT-TK) was detected in a MERRF patient (family ID: MT132), and an m.9176T>C (p.Leu217Pro) mutation in the mitochondrial ATP6 gene (MT-ATP6) was detected in a Leigh syndrome patient (family ID: MT130). Both mutations, which have been reported several times before in affected individuals, were not found in the control samples. Conclusion: This study suggests that mtDNA-targeted NGS will be helpful for the molecular diagnosis of genetically heterogeneous mitochondrial diseases with complex phenotypes.

• The Korean Journal of Ecology
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• v.21 no.5_3
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• pp.695-702
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• 1998

This study was carried out to investigate to determine seasonal variation of dehydrogenase activity, phosphatase activity, adenosine tri-phosphate content and some physicochemical properties, such as soil pH, moisture content, organic matter and several heavy metal concentrations from Apr. 1997 to jan. 1998 in Pinus densiflora and Quercus mongolica forest in Mt. Nam, to explain a relationship between enzyme activity and the soil factors. There were ranges of 4.03-4.65 in soil pH, 18.65-51.09% in moisture content and 6.69-95.95% in orgainc matter. The organic matter content decreased with soil horizon, showing the higher values in Q. mongolica forest. In comparison to the results of Kawngneung site as control area, there were slightly differences due to a development level of forest ecosystem and microbial degradation of organic matter. The heavy metal concentrations showed 32.50-75.55 ${\mu}g/g$ in Cu, 69.33-134.84 ${\mu}g/g$ in Zn, 57.02-150.32 ${\mu}g/g$ in Pb, and 0.36-1.00 ${\mu}g/g$ in Mt. Nam. These values are higher than in Kwangneung site because of long-term exposure to air pollutants from central city. On the other hand, ATP contents in Mt. Nam were lower than in Kawngneung site in relation to soil organic matter, moisture content and relatively high heavy metal concentrations. ATP contents per soil weight was largest in F+H layer and in spring time of other seasons. Dehydrogenase activity as an index of soil microbial activity had a ranges of 170.67-1,221.66 ${\mu}g$ TPF/g that showed lower values than in Kawngneung site. However, phophatase activity had a contray tendency due to P fertilization for a continuous management. Those values increased through spring to a maximum in the summer and fall in autumn. This is basically caused by metabolic state of soil on the biological activity and several and several factors, such as aeration, soil temperature, vegetation and microflora.

• Proceedings of the Ginseng society Conference
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• 1990.06a
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• pp.168-174
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• 1990

This study was focused on the characterization of mitochondrial DNA (mtDNA) for molecular genetically approach of energy Production related mechanism in Panax Ein.fend. The simple and efficient method of mtDNA isolation from ginseng has been developed by modification of recently advanced methods. This procedure can successfully apply to mtDNA isolation of several plants. MtDNA of etiolated shoot and one-year root were digested with restriction endonucleases, but that of 6-year root not Any difference was not observed in the restriction endonuclease digestion patterns among the ginseng variants. Molecular size of ginseng mtDNA was estimated at least 159 kb by the restriction endonuclease fragment analysis. The 4.5 kb extra band at the lane of EcoRll treatment could be observed in restriction patterns digested with the methylation sensitive endonucleases, BstN 1 and EcoRll. For construction of mitochondrial genomic library of ginseng, mtDNA was partially digested with EcoRl, and packaged with EMBL4 phage vector Genomic library was screened and purified for further research including restricttion mapping of ginseng mtDNA, and cloning of the genes. The gene of ATP synthase A subunit was cloned koto the purified EMBL4 library clone No. 16. Now, clone No. 16 is subcloned for structure gene sequence analysis.

• Journal of Ginseng Research
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• v.14 no.2
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• pp.310-316
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• 1990

This study was focused on the characterization of mitochondrial DNA (mtDNA) for molecular 9enetical approach of energy Production related mechanism in Panax ginseng. The simple and efficient method of mtDNA isolation from ginseng has been developed by modification of recently advanced methods. This procedure can successfully apply to mtDNA isolation of several plants. mtDNA of etiolated shoot and one-year root were digested with restriction endonucleases, but that of 6-year root not. Any difference was not observed in the restriction endonuclease digestion patterns among the ginseng variants. Molecular size of ginseng mtDNA was estimated at least 159 kb by the restriction endonuclease fragment analysis. The 4.5 kb extra band at the lane of EcoRII treatment could be observed in restriction patterns digested with the methylation sensitive endonucleases, BstN I and EcoRII. For construction of mitochondrial genomic library of ginseng, mtDNA was partially digested with EcoRl, and packaged with EMBL4 phage vector. Genomic library was screened and purified for further research including restriction mapping of ginseng mtDNA, and cloning of the genes. The gene of ATP synthase A subunit was cloned from the purified EMBL4 library clone No. 16. Now, clone No. 16 is subcloned for structure gene sequence analysis.

• Molecules and Cells
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• v.20 no.3
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• pp.416-422
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• 2005

We previously used Southern blot analysis to detect restriction-length polymorphisms between male fertile and cytoplasmic male sterile (CMS) cytoplasms at the coxII and atp6 loci of the mtDNA of Capsicum annuum L. Two copies of atp6 were found in each male fertile and CMS pepper lines. Interestingly, one of the copies of atp6 in CMS pepper was a 3'-truncated pseudogene. The open reading frame of the coxII gene was the same in the fertile (N-) and CMS (S-) lines. However, the nucleotide sequence in the S-cytoplasm diverged from that in the N-cytoplasm 41 bp downstream of the stop codon. To develop CMS-specific sequence-characterized amplified region (SCAR) markers, inverse PCR was performed to characterize the nucleotide sequences of the 5' and 3' flanking regions of mitochondrial atp6 and coxII from the cytoplasms of male fertile (N-) and CMS (S-) pepper plants. Based on these data, two CMS-specific SCAR markers, 607 and 708 bp long, were developed to distinguish N-cytoplasm from S-cytoplasm by PCR. The CMS-specific PCR bands were verified for 20 cultivars containing either N- or S-cytoplasm. PCR amplification of CMS-specific mitochondrial nucleotide sequences will allow quick and reliable identification of the cytoplasmic types of individual plants at the seedling stage, and assessment of the purity of $F_1$ seed lots. The strategy used in this report for identifying CMS-specific markers could be adopted for many other crops where CMS is used for F1 seed production.

• KOREAN JOURNAL OF CROP SCIENCE
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• v.44 no.3
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• pp.243-247
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• 1999

Mitochondrial DNA restriction fragment length polymorphisms are convenient markers for identifying cytoplasmic variation among plants. We have collected 212 wild soybeans (Glycine soja Sieb. et Zucc) from all over Korea, and classified mitochondrial genome types based on hybridization patterns in DNA gel-blot analyses using two mitochondrial DNA clones, cox2 and atp6, as probes. Korean wild soybean was classified with eight-mtDNA types, and some of the mtDNAs showed geographical clines among the regions. The diversity index of the mtDNA was much higher in the western and southern regions than in the eastern and northern regions of Korea, respectively. Dissemination and distributive characteristics of wild soybeans in Korea were discussed.

• Journal of Photoscience
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• v.9 no.2
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• pp.479-481
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• 2002

UV-induced DNA damage causes cell killing and mutations leading to carcinogenesis. In normal human cells, UV damage such as cyclobutane pyrimidine dimers (CPDs) and primidine-prymidone (6-4) photoproducts are mainly repaired by nucleotide excision repair mechanism. The molecular processes have been well characterized recently. To know the influence of mitochondrial genome on the nucleotide excision repair mechanism against CPDs, we comparatively examined the production of CPDs by UVC irradiation and their repair kinetics in human cells completely lacking mitochondrial DNA (mtDNA) and the parental HeLa S cells. Whole DNA extracted from the cells exposed to UVC was treated with T4-endonuclease V to break the phosphodiester bond adjacent to CPDs. The DNA was electrophoresed in a denaturing agarose gel, which was visualized by ethidium bromide staining. The relative amount of CPDs was determined by image analysis using NIH Image software. MtDNA- less (rho-O) cells were apparently more sensitive to UVC than HeLa S cells, while the level of induction of CPDs in rho-O and HeLa cells was comparable. The repair of CPDs was less efficient in rho-O cells compared with HeLa cells. The residual amount of CPDs after 24-h repair was larger in rho-O cells than in HeLa cells where more than 90 % of CPDs were repaired by then. The non-repaired CPDs would lead to apoptosis in rho-O cells. These results suggest that mitochondrial genome may contribute to some ATP-dependent steps in nucletide excision repair by supplying sufficient ATP which is generated through a respiratory chain in mitochondria.

• Parasites, Hosts and Diseases
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• v.54 no.6
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• pp.813-817
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• 2016

Armillifer agkistrodontis (Ichthyostraca: Pantastomida) is a parasitic pathogen, only reported in China, which can cause a zoonotic disease, pentastomiasis. A complete mitochondrial (mt) genome was 16,521 bp comprising 13 protein-coding genes (PCGs), 22 tRNA genes, 2 rRNA genes, and 1 non-coding region (NCR). A phylogenetic tree drawn with the concatenated amino acid sequences of the 6 conserved PCGs (atp6, cox1-3, and nad2) showed that A. agkistrodontis and Armillifer armillatus constituted a clade Pentastomida which was a sister group of the Branchiura. The complete mt genome sequence of A. agkistrodontis provides important genetic markers for both phylogenetic and epidemiological studies of pentastomids.

• Parasites, Hosts and Diseases
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• v.57 no.1
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• pp.55-60
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• 2019

This study was undertaken to determine the complete mitochondrial DNA sequence and structure of the mitochondrial genome of Spirometra ranarum, and to compare it with those of S. erinaceieuropaei and S. decipiens. The aim of this study was to provide information of the species level taxonomy of Spirometra spp. using the mitochondrial genomes of 3 Spirometra tapeworms. The S. ranarum isolate originated from Myanmar. The mitochondrial genome sequence of S. ranarum was compared with that of S. erinaceieuropaei (GenBank no. KJ599680) and S. decipiens (GenBank no. KJ599679). The complete mtDNA sequence of S. ranarum comprised 13,644 bp. The S. ranarum mt genome contained 36 genes comprising 12 protein-coding genes, 22 tRNAs and 2 rRNAs. The mt genome lacked the atp8 gene, as found for other cestodes. All genes in the S. ranarum mitochondrial genome are transcribed in the same direction and arranged in the same relative position with respect to gene loci as found for S. erinaceieuropaei and S. decipiens mt genomes. The overall nucleotide sequence divergence of 12 protein-coding genes between S. ranarum and S. decipiens differed by 1.5%, and 100% sequence similarity was found in the cox2 and nad6 genes, while the DNA sequence divergence of the cox1, nad1, and nad4 genes of S. ranarum and S. decipiens was 2.2%, 2.1%, and 2.6%, respectively.