• Title/Summary/Keyword: Mitochondrial DNA

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The distribution of mitochondrial DNA 5178A/C polymorphism in Korean elite athletes

  • Jang, Dai-Ho;Kim, Seon-Jeong;Kang, Byun-Yong;Kim, Hyun-Hee;Lee, Kang-Oh
    • Proceedings of the Korea Society of Environmental Toocicology Conference
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    • 2003.05a
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    • pp.176-176
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    • 2003
  • In the previous studies, some genetic polymorphisms in the human mitochondrial DNA have been associated with athletic performance in several populations. To investigate the relationship between mitochondrial DNA 5178A/C polymorphism and athletic performance in Korean population, blood samples were collected from 100 male Korean elite athletes and 64 sedentary controls. There was no significant difference in allele frequency of mitochondrial DNA 5178A/C polymorphism between two groups (P > 0.05). However, 5178A allele frequency in Korean population was very higher than those in other populations studied. Because it has been reported that this genetic polymorphisms is associated with longevity, further study will be needed to clarify the relationship between this genetic polymorphism and life expectancy of Korean population.

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Motochondrial DNA Polymorphism of the Blue Mussel (Mytilus edulis) Species Complex on the East Coast of Korea (한국 동해안에서 서식하는 진주담치(Mytilus edulis)의 미토콘드리아 DNA 다형현상)

  • Kim, Ik-Soo;Min, byung-Yoon;Yoon, Myung-Hee;Kim, Doh-Hoon
    • Journal of Life Science
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    • v.9 no.3
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    • pp.262-267
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    • 1999
  • Mitochondrial DNA (mtDNA) polymorphism of the blue mussel (Mytilus edulis) species complex sampled from the east coast of Korean was studied using a partial sequence of COIII gene (336 bp). Samples obtained from three localities on the east coast of Korea revealed four haplotypes with two clearly differentiated mitochondrial clades (termed clades B and E), separated by 4.2% of minimum sequence divergence. This pattern indicates no difference between east and south coasts of Korea. According to population genetic theory on evolutionary characteristics of mtDNA, we concluded that mtDNA introgression from M. edulis to M. gallprovincialis might be a source for mtDNA polymorphism found in mussels on the east coast of Korea.

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Effects of isorhamnetin on the regulation of mitochondrial function in C2C12 muscle cells (Isorhamnetin의 근육세포 미토콘드리아 기능조절에 미치는 효과)

  • Lee, Mak-Soon;Kim, Yangha
    • Journal of Nutrition and Health
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    • v.54 no.4
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    • pp.335-341
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    • 2021
  • Purpose: Muscle mitochondria play a key role in regulating fatty acid and glucose metabolism. Dysfunction of muscle mitochondria is associated with metabolic diseases such as obesity and type 2 diabetes. Isorhamnetin (ISOR), also known as 3-O-methylquercetin, a quercetin metabolite, is a naturally occurring flavonoid in many plants. This study evaluated the effects of ISOR on the regulation of the mitochondrial function of C2C12 muscle cells. Methods: C2C12 muscle cells were differentiated for 5 days, and then treated in various concentrations of ISOR. Cytotoxicity was determined by assessing cell viability using the water-soluble tetrazolium salt-8 assay principle at different concentrations of ISOR and time points. Levels of the mitochondrial DNA (mtDNA) content and gene expression were measured by quantitative real-time polymerase chain reaction. The citrate synthase (CS) activity was quantified by the enzymatic method. Results: ISOR at a concentration of 10 µM did not show any cytotoxic effects. ISOR increased the mtDNA copy number in a time- or dose-dependent manner. The messenger RNA levels of genes involved in mitochondrial function, such as peroxisome proliferator-activated receptor-γ coactivator-1α, and uncoupling protein 3 were significantly stimulated by the ISOR treatment. The CS activity was also significantly increased in a time- or dose-dependent manner. Conclusion: These results suggest that ISOR enhances the regulation of mitochondrial function, which was at least partially mediated via the stimulation of the mtDNA replication, mitochondrial gene expression, and CS activity in C2C12 muscle cells. Therefore, ISOR may be useful as a potential food ingredient to prevent metabolic diseases-associated muscle mitochondrial dysfunction.

The Genetic Organization of the Linear Mitochondrial Plasmid mlp1 from Pleurotus ostreatus NFFA2

  • Kim, Eun-Kyoung;Youn, Hye-Sook;Koo, Yong-Bom;Roe, Jung-Hye
    • Journal of Microbiology
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    • v.35 no.4
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    • pp.264-270
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    • 1997
  • The structure of plasmid mlp1, a linear 10.2kb mitochondrial plasmid of Pleurotus ostreatus NFF A2 was determined by restriction enzyme mapping and partial sequencing. The plasmid encodes at least two proteins; a putative RNA polymerase showing homology to yeast mitochondrial RNA polymerase and to viral-encoded RNA polymerases, and a putative DNA polymerase showing significant homology to the family B thpe DNA polymerases. It also contains terminal inverted repeat sequences at both ends which are longer than 274 bp. A 1.6 kb EcoRI restriction fragment of m1p1 containing the putative RNA polymerase gene did not hybridize to the nuclear or motochondrial genomes from P. ostreatus, suggesting that it may encode plasmidspecific RNA polymerase. The gene fragment also did not hybridize with the RNA polymerase gene (RPO41) from Saccaromyces cerevisiae. The relationship between genes in m1p1 and those in another linear plasmid pC1K1 of Claviceps purpurea was examined by DNA hybridization. The result indicates that the genes for DNA and RNA polymerases are not closely related with those in C. purpurea.

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Discrepancies between Mitochondrial DNA and AFLP Genetic Variation among Lineages of Sea Slaters Ligia in the East Asian Region

  • Kang, Seunghyun;Jung, Jongwoo
    • Animal Systematics, Evolution and Diversity
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    • v.36 no.4
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    • pp.347-353
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    • 2020
  • Although sea slaters Ligia have a significant role in rocky shore habitats, their taxonomic entities have not been clearly understood. In this study, we investigated whether genetic variation inferred from a nuclear genetic marker, namely amplified fragment length polymorphism (AFLP), would conform to that of a mitochondrial DNA marker. Using both the mitochondrial DNA marker and the AFLP marker amplified by the six selective primer sets, we analyzed 95 Ligia individuals from eight locations from East Asia. The direct sequencing of mitochondrial 16S rRNA gene revealed three distinct genetic lineages, with 9.8-11.7 Kimura 2-parameter genetic distance. However, the results of AFLP genotyping analysis with 691 loci did not support those of mitochondrial DNA, and revealed an unexpectedly high proportion of shared polymorphisms among lineages. The inconsistency between the two different genetic markers may be explained by difference in DNA evolutionary history, for example inheritance patterns, effective population size, and mutation rate. The other factor is a possible genomic island of speciation, in that most of the genomic parts are shared among lineages, and only a few genomic regions have diverged.

Study on the Genetic Variation of the Mitochondrial DNA in the Beet Armyworm, Spodoptera exigua (H bner), Using PCR-RFLP (PCR-RFLP를 이용한 파방나방 (Spodoptera exigua(H bner)) 미토콘트리아 DNA의 유전변이 연구)

  • 김용균;이명렬;정충렬
    • Korean journal of applied entomology
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    • v.37 no.1
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    • pp.23-30
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    • 1998
  • Restriction fragment length polymorphism (RFLP) of a DNA has been a useful tool for analyzing genetic variation. This research was performed to establish an RFLP analytic method on the mitochondrial DNA (mtDNA) of the beet armyworm, Spodoptera exigua (Hiibner). To do this, total size of the mtDNA was measured and polymerase chain reaction (PCR) primers were selected. Its mitochondrial genome size was ca. 16kb. From a serial PCR test of 29 primers refered to the compilation of Simon et al. (1994), 22 primers were selected to amplify its mtDNA fragments. These primers resulted in short (300-700 bp) or long (1000-2000 bp) DNA products which represented a total or partial sequence of each of CO-I, CO-11, Cyt-B, ND-1, 12s rRNA, 16s rRNA, and some tRNAs. PCR-RFLP was performed in some variable mtDNA regions with 8 kinds of 4bp recognizing restriction enzymes. Different populations from Andong, Kyungsan, and Sunchun did not show any restriction site polymorphisms but had some length variation in certain regions of mtDNA.

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Identification of causative mutations in patients with Leigh syndrome and MERRF by mitochondrial DNA-targeted next-generation sequencing

  • Hong, Hyun Dae;Kim, Eunja;Nam, Soo Hyun;Yoo, Da Hye;Suh, Bum Chun;Choi, Byung-Ok;Chung, Ki Wha
    • 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.

Unusual Mitochondrial DNA Polymorphism of the Blue Mussel (Mytilus edulis) Species Complex on the Southern Coast of Korea

  • Iksoo Kim;Byung-Yoon Min;Myung-Hee Yoon;Myong-Suk Yoo;Doh-Hoon Kim
    • Animal cells and systems
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    • v.3 no.1
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    • pp.79-87
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    • 1999
  • Mitochondrial DNA (mtDNA) from 54 specimens of the blue mussel (Mytilus edulis) species complex sampled from the southern coast of Korea was assayed for polymorphism with a portion of the COIII gene (336 bp). Fifteen haplotypes were found. PAUP, one-step networks, and PHYLIP analyses revealed the presence of two clearly differentiated mitochondrial clades (termed clades B and E), separated by 3.6% of minimum sequence divergence. The distribution pattern of the species appears to be consistent with category II of the phylogeographic pattern sensu (Avise et al., 1987): the presence of two discontinuous and distinct mtDNA genotypes in the same geographic region. This unusual mitochondrial polymorphism was explained by the presence of the Mediterranean species, M. galloprovincialis, possessing mtDNA of both M. galloprovincialis and M. edulis.

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Mitochondria Control Protein as a Novel Therapeutic Target for Metabolic Syndrome

  • KimPak, Young-Mi
    • Proceedings of the Korean Society of Applied Pharmacology
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    • 2008.04a
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    • pp.23-30
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    • 2008
  • Mitochondria biogenesis requires a coordination of two genomes, nuclear DNA (nDNA) and mitochondrial DNA (mtDNA). Disruption of mitochondria function leads to a loss of mitochondrial membrane potential and ATP generating capacity and consequently results in chronic degenerative diseases including insulin resistance, metabolic syndrome and neurodegenerative diseases. Although PPAR-${\gamma}$ coactivator-$1{\alpha}$ (PGC-$1{\alpha}$) was discovered as a central regulator of mitochondria biogenesis and a transcriptional co-activator of nuclear respiratory factor (NRF) and mitochondrial transcription factor A (Tfam), the expressions of PGC-$1{\alpha}$, NRF and Tfam were not significantly altered in tissues showing abnormal mitochondria functions. This observation suggests that there should be another regulator(s) for mitochondria function. Here, we demonstrate microRNAs (miRNAs) can modulate mitochondria function. Overexpression of microRNA dissipated mitochondrial membrane potential and increased ROS production in vitro and in vivo. It will be discussed the target of microRNA and its role in metabolic syndrome.

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Animal species identification by co-amplification of hypervariable region 1 (HV1) and cytochrome b in mitochondrial DNA

  • Lim, Si Keun;Park, Ki Won
    • Analytical Science and Technology
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    • v.18 no.3
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    • pp.257-262
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    • 2005
  • Mitochondrial DNA (mt DNA) sequence analysis has been a useful tool for species identification of animals and human individuals. Two hypervariable regions (HV1 and HV2) in control region of mitochondrial genome were analyzed for human individual identification. In case of animal species identification, several genes on mt DNA such as cytochrome b (cytb), RNAs, cytochrome oxidases (CO) were used. In this study, co-amplification of HV1 and cytb was carried out in order to check the contamination of animal DNA and to verify the human DNA. The primer sets used in PCR were H15997/L16236 for HV1 and H14724/L15149 for cytb. PCR products for HV1 and cytb were 239 bp and 425 bp, respectively. The appearance of two bands on agarose gel implied the DNA came from human, however the single band of cytb gene represented the non-human animal DNA.