• BMB Reports
• /
• v.36 no.2
• /
• pp.179-184
• /
• 2003

Duchenne muscular dystrophy (DMD) is the most common hereditary neuromuscular disease. It is inherited manifestations. In some rare cases, the disease can also be manifested in females. The aim of the present study was to determine the molecular alteration in two cases of nonrelated DMD symptomatic carriers with no previous history of DMD. Multiplex PCR is commonly used to search for deletion in the DMD gene of affected males. This method could not be used in females because the normal X chromosome masks the deletion of the mutated one. Therefor, we used a set of seven highly polymorphic dinucleotide $(CA)_n$ repeat markers that lie within the human dystrophin gene. The deletions were evidenced by hemizygosity of the loci under study. We localized a deletion in the locus 7A (intron 7) on the maternal X chromosome in one case, and a deletion in the region of introns 49 and 50 on the paternal X chromosome in the other. The use of microsatellite genotyping within the DMD gene enables the detection of the mutant allele in female carriers. It is also a useful method to provide DMD families with more accurate genetic counseling.

• The Korean Journal of Physiology and Pharmacology
• /
• v.19 no.5
• /
• pp.451-460
• /
• 2015

Sirtuin 1 (SIRT1) is a mammalian $NAD^+$-dependent protein deacetylase that regulates cellular metabolism and inflammatory response. The organ-specific deletion of SIRT1 induces local inflammation and insulin resistance in dietary and genetic obesity. Macrophage-mediated inflammation contributes to insulin resistance and metabolic syndrome, however, the macrophage-specific SIRT1 function in the context of obesity is largely unknown. C57/BL6 wild type (WT) or myeloid-specific SIRT1 knockout (KO) mice were fed a high-fat diet (HFD) or normal diet (ND) for 12 weeks. Metabolic parameters and markers of hepatic steatosis and inflammation in liver were compared in WT and KO mice. SIRT1 deletion enhanced HFD-induced changes on body and liver weight gain, and increased glucose and insulin resistance. In liver, SIRT1 deletion increased the acetylation, and enhanced HFD-induced nuclear translocation of nuclear factor kappa B (NF-${\kappa}B$), hepatic inflammation and macrophage infiltration. HFD-fed KO mice showed severe hepatic steatosis by activating lipogenic pathway through sterol regulatory element-binding protein 1 (SREBP-1), and hepatic fibrogenesis, as indicated by induction of connective tissue growth factor (CTGF), alpha-smooth muscle actin (${\alpha}$-SMA), and collagen secretion. Myeloid-specific deletion of SIRT1 stimulates obesity-induced inflammation and increases the risk of hepatic fibrosis. Targeted induction of macrophage SIRT1 may be a good therapy for alleviating inflammation-associated metabolic syndrome.

• Journal of Haehwa Medicine
• /
• v.12 no.2
• /
• pp.177-197
• /
• 2004

1. The values of Cronbach's alpha for the Taeyang, Taeum, Soyang and Soeum questionnaire were 0.7955, 0.7776, 0.8545, and 0.8601 respectively. These results indicate a highly satisfactory level of internal consistency for the questionnaire. 2. If the deletion of an item increases Cronbach's alpha then what that means is that the deletion of that item improves reliability. Therefore, any items that result in substantially greater values of alpha than the overall alpha may need to be deleted from the questionnaire to improve its reliability. 3. Factor analysis was performed on the 81 questionnaires. Based on the scree plot and the number and decrement of eigen values greater than one, three to four factor solution was most significant. 4. The hierarchical cluster analysis was performed on the 81 Sasang constitution questionnaire. These results suggested that two or four clusters identified with homogeneous groups 5. The hierarchical cluster analysis was performed on the 1046 responders. These results suggested that two, three, or four clusters might identified with homogeneous groups. Furthemore, there were statistically significant difference among the each group by ANOVA(P<0.0001).

• Microbiology and Biotechnology Letters
• /
• v.51 no.3
• /
• pp.243-249
• /
• 2023

We recently found that the insect-derived antimicrobial peptide CopA3 (LLCIALRKK) directly binds to and inhibits the proteolytic activation of caspases, which play essential roles in apoptotic processes. However, the mechanism of CopA3 binding to caspases remained unknown. Here, using recombinant GST-caspase-3 and -6 proteins, we investigated the mechanism by which CopA3 binds to caspases. We showed that replacement of cysteine in CopA3 with alanine caused a marked loss in its binding activity towards caspase-3 and -6. Exposure to DTT, a reducing agent, also diminished their interaction, suggesting that this cysteine plays an essential role in caspase binding. Experiments using deletion mutants of CopA3 showed that the last N-terminal leucine residue of CopA3 peptide is required for binding of CopA3 to caspases, and that C-terminal lysine and arginine residues also contribute to their interaction. These conclusions are supported by binding experiments employing direct addition of CopA3 deletion mutants to human colonocyte (HT29) extracts containing endogenous caspase-3 and -6 proteins. In summary, binding of CopA3 to caspases is dependent on a cysteine in the intermediate region of the CopA3 peptide and a leucine in the N-terminal region, but that both an arginine and two adjacent lysines in the C-terminal region of CopA3 also contribute. Collectively, these results provide insight into the interaction mechanism and the high selectivity of CopA3 for caspases.

• Asian Pacific Journal of Cancer Prevention
• /
• v.16 no.5
• /
• pp.1935-1937
• /
• 2015

The potential association between the GSTM1 deletion polymorphism and risk of cervical cancer was investigated in Northeastern Thailand. DNA was extracted from buffy coat specimens of 198 patients with squamous cell carcinoma of the cervix and 198 age-matched healthy controls. Genotyping of the GSTM1 was conducted by using two PCR methods, a short- and a long-PCR. Distribution of the GSTM1 genotypes in between the cases and the controls was not significantly different (p>0.5 by ${\chi}^2$ test). The results suggest that the GSTM1 deletion polymorphism is not a risk factor for squamous cell carcinoma of the cervix in the northeast Thai women.

• Journal of Microbiology and Biotechnology
• /
• v.8 no.4
• /
• pp.422-425
• /
• 1998

Chitin synthase null-mutants propagate in yeast form in RPMI medium with suppression of hyphal growth. This hyphal suppression is also observed in the wild type culture grown in RPMI medium supplemented with deer antler extract. To identify the possible target of deer antler extract, the enzymatic activities of chitin synthases were examined. The enzymatic activities of three chitin synthases, CAChsl, CAChs2, and CAChs3, were found to be differentially inhibited by deer antler extract. Of them, CAChsl, was the most sensitive to the extract. These results indicate that deer antler extract causes hyphal suppression, which resembles the effects of chitin synthase deletion, probably through direct inhibition of chitin synthases.

• Speech Sciences
• /
• v.15 no.3
• /
• pp.79-94
• /
• 2008

The purpose of this study was to compare phonological awareness ability of students with Down Syndrome(DS) and typically developing children(TD). TD and DS were equal the reading abilities(reading recognition). The subject were 10 DS and 10 TD, and were examined by test of phonological awareness. The test of phonological awareness was composed according to phonological units(word, syllable, phoneme) and task types(deletion, discrimination, blending). The results obtained in this study were as follows: The total score of phonological awareness ability of DS were significantly lower than TD. And the score of phonological awareness ability according to phonological units and task types were significantly lower than TD. But both DS and TD performed better on phonological deletion and blending task than discrimination. TD and DS represented different correlation between task types and phonological units. This means that TD performed better on all types of tasks and phonological units than DS.

• ETRI Journal
• /
• v.34 no.4
• /
• pp.637-640
• /
• 2012

The Davey-MacKay construction is a promising concatenated coding scheme involving an outer $2^k$-ary code and an inner code of rate k/n, for insertion-deletion-substitution channels. Recently, a lookup table (LUT)-based inner decoder for this coding scheme was proposed to reduce the computational complexity of the inner decoder, albeit at the expense of a slight degradation in word error rate (WER) performance. In this letter, we show that negligible deterioration in WER performance can be achieved with an LUT as small as $7{\cdot}2^{k+n-1}$, but no smaller, when the probability of receiving less than n-1 or greater than n+1 bits corresponding to one outer code symbol is at least an order of magnitude smaller than the WER when no LUT is used.

• Korean Journal of Fisheries and Aquatic Sciences
• /
• v.43 no.6
• /
• pp.637-641
• /
• 2010

The antibiotics-resistance profiles of 28 strains of Vibrio parahaemolyticus isolated from seawater were investigated. All of the strains studied were resistant to ampicillin (100%), but susceptible to 12 other antibiotics. The minimum inhibitory concentration (MIC) of V. parahaemolyticus to ampicillin was as high as $1,024-2,048\;{\mu}g{\cdot}mL^{-1}$. The phenotype of strain 8 changed from ampicillin-resistant to susceptible with an in-frame deletion mutant of VPA0477, a putative ${\beta}$-lactamase gene, and the MIC for ampicillin of the mutant strain was $1{\mu}g{\cdot}mL^{-1}$. In conclusion, our findings suggest that the VPA0477 gene acts as a ${\beta}$-lactamase in ampicillin-resistant V. parahaemolyticus strains.

• Journal of Microbiology and Biotechnology
• /
• v.18 no.11
• /
• pp.1797-1802
• /
• 2008

Saccharomyces cerevisiae was metabolically engineered to improve 1,2-propanediol production. Deletion of the tpil (triosephosphate isomerase) gene in S. cerevisiae increased the carbon flux to DHAP (dihydroxylacetone phosphate) in glycolysis, resulting in increased glycerol production. Then, the mgs and gldA genes, the products of which convert DHAP to l,2-propanediol, were introduced to the tpil-deficient strain using a multicopy plasmid. As expected, the intracellular level of methylglyoxal was increased by introduction of the mgs gene in S. cerevisiae and that of 1,2-propanediol by introduction of both the mgs and gldA genes. As a result, 1.11 g/l of 1,2-propanediol was achieved in flask culture.