• Journal of Species Research
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• v.8 no.3
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• pp.313-317
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• 2019

Bats influence overall ecosystem health by regulating species diversity and being a major source of zoonotic viruses. Hence, there is a need to elucidate their migration, population structure, and phylogenetic relationship. The complete mitochondrial genome is widely used for studying the genome-level characteristics and phylogenetic relationship of various animals due to its high mutation rate, simple structure, and maternal inheritance. In this study, we determined the complete mitogenome sequence of the bird-like noctule (Nyctalus aviator) by Illumina next-generation sequencing. The sequences obtained were used to reconstruct a phylogenic tree of Vespertilionidae to elucidate the phylogenetic relationship among its members. The mitogenome of N. aviator is 16,863-bp long with a typical vertebrate gene arrangement, consisting of 13 protein-coding genes (PCGs), 22 transfer RNA genes, 2 ribosomal RNA genes, and 1 putative control region. Overall, the nucleotide composition is as follows: 32.3% A, 24.2% C, 14.3% G, and 29.2% T, with a slight AT bias (61.5%). The base composition of the 13 PCGs is as follows: 30.3% A, 13.4% G, 31.0% T, and 25.2% C. The phylogenetic analysis, based on 13 concatenated PCG sequences, infers that N. aviator is closely related to N. noctula with a high bootstrap value (100%).

• Journal of the Korean Society of Radiology
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• v.81 no.6
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• pp.1478-1485
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• 2020

Leigh syndrome or subacute necrotizing encephalomyelopathy is a rare, rapidly progressive neurodegenerative disorder. In general, symptoms such as shortness of breath and decreased cardiac function usually occur within 1 year of life. It is a serious disease with a mortality rate of 75% in 2-3 years. The cause of Leigh syndrome is DNA mutation. Approximately 75% of patients have nuclear DNA mutations while 25% have mitochondrial DNA mutations. Clinical symptoms vary depending on the affected brain area. Neuroimaging plays an important role in diagnosing patients with Leigh syndrome. Late-onset Leigh syndrome is rarer and progresses more slowly compared to the classic form. Here, we report a case of late-onset Leigh's syndrome mimicking Wernicke's encephalopathy.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.16 no.2
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• pp.102-108
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• 2016

Mitochondrial encephalopathy, lactic acidosis, and stroke-like episode (MELAS) syndrome is one of mitochondrial encephalopathy. As the early clinical manifestations can be variable, it is important to suspect the disease, especially in patients with multiple organ dysfunctions. A boy was diagnosed with epilepsy when he was 9 years old. Two years later, severe headache and blurred vision developed suddenly. On examination, left homonymous hemianopsia was detected with corresponding cerebral parenchymal lesions in right temporo-occipito-parietal areas. MELAS syndrome was confirmed by genetic test, which showed m.3243 A>G mitochondrial DNA mutation. Multivitamins including coenzyme Q10 were added to anticonvulsant. He experienced 4 more events of stroke-like episodes over 5 years, but he is able to perform normal daily activities. A 13-year-old boy was brought to the hospital due to suddenly developed respiratory arrest and asystole associated with pneumonia. Past medical history revealed that he had multiple medical problems such as epilepsy, failure-to-thrive, optic atrophy, and deafness. He has been on valproic acid as an anticonvulsant which was prescribed from local clinic. He recovered after the resuscitation, but his cognition and motor function were severely damaged. He became bed-ridden. He was diagnosed with MELAS syndrome by brain MRI, muscle biopsy, and clinical features. Genetic test did not reveal any mitochondrial gene mutation. Four years later, he expired due to suddenly developed severe metabolic acidosis combined with hyperglycemic hyperosmolar nonketotic coma. The clinical features of MELAS syndrome are variable. Early diagnosis before the presentation to the grave clinical course may be important for the better clinical outcome.

• Asian Pacific Journal of Cancer Prevention
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• v.13 no.10
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• pp.5113-5117
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• 2012

Prohibitin (PHB) is a chaperone protein which is highly conserved evolutionarily. It shows significant homology with the Drosophila cc gene which is considered important for development and differentiation of Drosophila melanogaster. Investigations have revealed an involvement of PHB in cellular proliferation and development, apoptosis, signal transduction, mitochondrial function and regulation of the estrogen and androgen receptors. Therefore, we conducted the present study to analyze mutations in the highly conserved region in Indian female breast cancer patients. Conventional PCR-SSCP and Automated DNA sequencing were performed with a total of 105 breast cancer samples along with adjacent normal tissue. Of the total, 14.2% (15/105) demonstrated a mutation status of prohibitin observed in our study population. We identified a novel missense mutation (Thr>Ser), a novel deletion of T nucleotide in an intron adjacent to intron-exon boundary and a previously determined missense mutation (Val>Ala). A statistically significant correlation was obtained which suggested that prohibitin may be associated with tumor development and/or progression of at least some proportion of breast cancers.

• The Korean Journal of Pesticide Science
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• v.14 no.3
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• pp.247-254
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• 2010

Two-spotted spider mite, Tetranychus urticae was collected from the rose greenhouse in Chilgok, Gyeongbuk Province in December 2000. This population has been selected for ten years with bifenazate (over 450 times), and increased 855.9 fold in resistance as compared with susceptible strain (S). Cross resistance of bifenazate resistant (BR) strain to eight miticides was investigated. The BR strain exhibited high and low cross resistance to acequinocyl (614.0 fold) and to chlorfenapyr (9.1 fold), respectively. Against fenazaquin (0.3 fold) and fenpyroximate (0.1 fold), however, showed the strain negatively correlated cross resistance. Each strain collected in Choeng-ju (CJ), Kang-jin (KJ), and Chung-ju (CUJ) showed 5.5-, 964.5-, and 21.8-fold resistance to bifenazate, respectively. The detoxifying enzymes of the BR strain showed 1.6-fold activity in cytochrome $P_{450}$-dependent monooxygenase ($P_{450}$) as compared with susceptible one. By comparing the mitochondrial cytochrome b (cytb) sequence, G126S point mutation was detected in the BR and KJ strains.

• Journal of Life Science
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• v.23 no.1
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• pp.24-30
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• 2013

The purpose of this study was to identify genetic polymorphisms of the mitochondrial cytochrome b (mtDNA cyt b) gene in Korean black (KB) cattle breed and to analyze the genetic relationship between the KB and other breeds. We determined the complete sequence of the mtDNA cyt b gene in 38 KB cattle. We also analyzed their genetic diversity, and phylogenetic analysis was performed by comparison with Korean cattle (KC, called Hanwoo) and breeds from China and Japan. A nucleotide substitution was detected in the KB cattle, and two haplotypes were defined. In the neighbor-joining (NJ) tree, the haplotypes of KB were located in Bos taurus lineage with those of KC, Japanese black (JB), Yanbian and Zaosheng breeds. However, the haplotypes of Chinese breeds, excluding Yanbian and Zaosheng, were separated into B. taurus and B. indicus lineages. In the NJ tree of breeds based on Dxy genetic distances, Chinese breeds mixed with B. taurus and B. indicus lineages were located between B. indicus and B. taurus lineages. KB was contained within B. taurus lineage and was determined to be genetically more closely related to two Chinese (Yanbian and Zaosheng) breeds than to KC and JB. The haplotype distribution and the results of the phylogenetic analysis suggest that KB and KC have genetic differences in their mtDNA cyt b gene sequences.

• Molecules and Cells
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• v.38 no.4
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• pp.356-361
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• 2015

Mitochondrial dysfunction is associated with insulin resistance and diabetes. We previously showed that retinoid X receptor ${\alpha}$ ($RXR{\alpha}$) played an important role in transcriptional regulation of oxidative phosphorylation (OXPHOS) genes in cells with mitochondrial dysfunction caused by mitochondrial DNA mutation. In this study, we investigated whether mitochondrial dysfunction induced by incubation with OXPHOS inhibitors affects insulin receptor substrate 1 (IRS1) mRNA and protein levels and whether $RXR{\alpha}$ activation or overexpression can restore IRS1 expression. Both IRS1 and $RXR{\alpha}$ protein levels were significantly reduced when C2C12 myotubes were treated with the OXPHOS complex inhibitors, rotenone and antimycin A. The addition of $RXR{\alpha}$ agonists, 9-cis retinoic acid (9cRA) and LG1506, increased IRS1 transcription and protein levels and restored mitochondrial function, which ultimately improved insulin signaling. $RXR{\alpha}$ overexpression also increased IRS1 transcription and mitochondrial function. Because $RXR{\alpha}$ overexpression, knock-down, or activation by LG1506 regulated IRS1 transcription mostly independently of mitochondrial function, it is likely that $RXR{\alpha}$ directly regulates IRS1 transcription. Consistent with the hypothesis, we showed that $RXR{\alpha}$ bound to the IRS1 promoter as a heterodimer with peroxisome proliferator-activated receptor ${\delta}$ ($PPAR{\delta}$). These results suggest that $RXR{\alpha}$ overexpression or activation alleviates insulin resistance by increasing IRS1 expression.

• Clinical and Experimental Pediatrics
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• v.48 no.12
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• pp.1295-1309
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• 2005

Nowadays, the nutritional deficits are rarely seen in Korea. However, an increased availability of the highly palatable energy dense, nutrient-poor foods increases the risks of obesity and deficits of vitamins and minerals in the general population. Also, optimum intake of vitamins and minerals, which varies with age and genetic back ground, might not suffice the poor, young, obese, and elderly people. Young girls and individuals participating in weight reductions and aesthetic components are prone to micronutrient deficiencies because they restrict food intake and specific micronutrient rich foods. An inadequate intake of vitamins or minerals is associated with reduced physical performance and exercise capacity, increased obesity, decreased cognitive function, increased DNA damages such as single- and double-stranded breaks or oxidative DNA lesions, and accelerated aging process and increased neuronal damages with mitochondrial oxidative decay. Most of these deleterious effects of the deficit could be prevented by a one tablet of multivitamins with a good balanced diet. High dose B vitamins are frequently administered to overcome the metabolic inadequacy to the people with the less functional enzymes with increased Km values for their coenzymes due to the single gene mutation or due to the single nucleotide polymorphisms. And some certain antioxidant vitamins are also used in large quantities to overcome the oxidative stress and to repair the damages. In this review, new nutritional concepts of some vitamins and minerals, which are widely used and useful for the children, will be discussed.

• Journal of Genetic Medicine
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• v.18 no.2
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• pp.121-126
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• 2021

Chronic progressive external ophthalmoplegia (CPEO) is a complex slowly progressive mitochondrial disorder characterized by extraocular muscle weakness with or without multisystem involvement. The mainstay of therapy in a patient with CPEO is supportive. However, in moderate cases, surgery might be indicated including surgeries for ptosis and strabismus. In this article, we report a Saudi patient with CPEO due to compound heterozygous variants in the DNA polymerase gamma (POLG) gene c.2246T>C p.(Phe749Ser) and c.1735C>T p.(Arg579Trp), which are classified as pathogenic. Proper diagnosis with genetic testing confirmation is important to guide the management and counsel the patient about the prognosis and the management options. The patient was successfully managed with bilateral frontalis sling and illustrates the importance of surgical intervention to improve vision and cosmetic appearance in patients with CPEO. We emphasize the importance of multidisciplinary care in the management of cases of mitochondriopathy, especially CPEO.

• Journal of Animal Science and Technology
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• v.46 no.5
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• pp.735-742
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• 2004

This study was conducted for the identification of pure Landrace, Large White and Duroc breeds which are mainly maintained in Korea using DNA markers. We used known KIT and MC1R mutations, which were related coat color in pigs, and pig mitochondrial DNA variations. The KIT mutation was used to distinguish white and colored animals. Duroc breed could be discriminated from other colored breeds using the MC1R mutation N121D. Discriminating Landrace and Large White was possible using the l l-bp duplication of D-Ioop region and alternative initiation codon of ND2. In conclusion, identification of Landrace, Large White and Duroc breeds was might be possible using the procedure designed in this study.