• Molecules and Cells
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• v.20 no.2
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• pp.228-234
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• 2005

Caenorhabditis elegans him-6 mutants, which show a high incidence of males and partial embryonic lethality, are defective in the orthologue of human Bloom's syndrome protein (BLM). When strain him-6(e1104) containing a missense him-6 mutation was irradiated with ${\gamma}$-rays during germ cell development or embryogenesis, embryonic lethality was higher than in the wild type, suggesting a critical function of the wild type gene in mitotic and pachytene stage germ cells as well as in early embryos. Even in the absence of ${\gamma}$-irradiation, apoptosis was elevated in the germ cells of the him-6 strain and this increase was dependent on a functional p53 homologue (CEP-1), suggesting that spontaneous DNA damage accumulates due to him-6 deficiency. However, induction of germline apoptosis by ionizing radiation was not significantly affected by the deficiency, indicating that HIM-6 has no role in the induction of apoptosis by exogenous DNA damage. We conclude that the C. elegans BLM orthologue is involved in DNA repair in promeiotic cells undergoing homologous recombination, as well as in actively dividing germline and somatic cells.

• Journal of Nutrition and Health
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• v.2 no.4
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• pp.113-125
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• 1969

These experiments were designed to study the influence of early protein undernutrition on growth, behaviors toward food, general attitude toward a new environment, brain size and body composition of the experimental rats. The following experimental groups were studied. Lactation period (3 weeks) (Diets of mother rats) 25% Casein diet 12% Casein diet 25% Casein diet 25% Casein diet 12% Casein diet 12% Casein diet After-weaning protein deprivation period None deprivation (25% Casein diet) None deprivation (25% Casein diet) 5% Casein diet (4 weeks) 5% Casein diet (8 weeks) 5% Casein diet (4 weeks) 5% Casein diet (8 weeks) After a long period of rehabilitation with 25% casein diet the following results were obtained. 1. Growth rate during lactation period is closely related with the protein levels of the diet for mother rats. The average body weight of offsprings of the mother rat fed 25% casein diet is 46.0 grams at 21 days old. However, that of the mother rat fed 12% casein diet is only 25.0 grams. 2. The group of protein undernutrition during lactation (S weeks) (offsprings of mother rat fed low protein diet, 12% casein diet) could never catch up with the normal group in its growth even after twenty-four (24) weeks of rehabilitation. 3. However, the groups of protein undernutrition during either four (4) or even eight (8) weeks after weaning could catch up with the normal group in their growth after long period of rehabilitation. 4. The absolute amounts of carcass protein and fat of the normal group are larger than those of the protein deficient groups. In terms of percent carcass, however, the normal group showed higher body fat and lower body protein than the early deficient groups. However, there is no difference between preweaning (3 weeks) and postweaning (8 weeks) deficient groups. It is assumed, from these differences in body composition, that there might be any differences in physiological and metabolic functions among these various groups, and also that the basic formation of various metabolic regulators (protein-nature) might be fixed mostly during lactation and postweaning period. 5. The groups of protein undernutrition during either three (3) weeks lactation or four (4) weeks after weaning are not so remarkably different from the normal group in their amounts of food intake and spillage. However, the groups of undernutrition during either eight (8) weeks postweaning or eleven (11) weeks (3 weeks lactation period plus 8 weeks postweaning period) showed higher amounts of food intake and spillage. In these respects, it seems that desire for food is closely related with the degree of early hunger in protein and also seems that the longer be deficient in early life the more food spillage is found. 6. Both preweaning and postweaning deficient groups showed generally nervous and restless. The normal group is staid and showed less mobilities. 7. The average size of the brains of the group subjected to protein deficiency during three (3) weeks lactation period is smaller than that of the group of the eight (8) weeks postweaning deficiency. This means that the development of the brain is made mostly during lactation period. The group of the eleven (11) weeks postnatal deficiency is significantly different from the normal group in its brain development. It is assumed, in connection with the results of various maze tests reported, that the brain size is closely related with the intellectual ability.

• Journal of Genetic Medicine
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• v.9 no.1
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• pp.38-41
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• 2012

A 32-year-old female patient and her sister show high levels of high density lipoprotein (HDL) cholesterol in regular health checkups, since female patient was 11 years old. The patient's serum total cholesterol was 285 mg/dL and HDL cholesterol was 113 mg/dL. Her sister's total cholesterol was 240 mg/dL and the HDL cholesterol measured to be 90 mg/dL. Lipoprotein pattern and cholesteryl ester transfer activity gene analysis were examined in these patients. We found c.1321+1G>A (IVS14+1G/A) hetero mutation in cholesteryl ester transfer protein (CETP) genes. Generally, CETP mediates transfer and exchange of triglycerides and cholesteryl ester between plasma lipoproteins. Also we investigated a key role of HDL-CE and Apo A-1 metabolism. Patients with low levels of CETP have increased serum HDL levels. We hereby report two Korean cases of CETP deficiency in a family. Brief literature review ensues with the cases.

• Journal of Korean Society of Occupational and Environmental Hygiene
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• v.29 no.1
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• pp.42-49
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• 2019

Objective: Chronic obstructive pulmonary disease(COPD) is characterized by persistent airflow limitations associated with chronic inflammatory response due to noxious particles or gases in the lung. Iron deficiency is associated with chronic inflammation, such as COPD. The aim of this study was to evaluate the relationship among iron deficiency, iron homeostasis, and inflammation in retired miners with COPD. Methods: The serum levels of ferritin, soluble transferrin receptor(sTfR), and transferrin saturation(TSat) as biomarkers for iron deficiency and high-sensitivity C-reactive protein(hsCRP) as a biomarker for inflammation and hepcidin as a biomarker for iron homeostasis were measured in 93 male subjects. Iron deficiency was defined as any one or more of (1) sTfR>28.1 nmol/L, (2) TSat<16%, and (3) ferritin< $12{\mu}g/L$. Results: Iron deficiency was found 28% of the study subjects. Median levels of serum hsCRP was significantly increased related to airflow limitation of COPD(GOLD 1, $0.09{\mu}g/dL$ vs. GOLD 2, $0.17{\mu}g/dL$ vs. GOLD $3{\leq}$, $0.30{\mu}g/dL$, p=0.010), and was positively correlated with hepcidin(p=0.009). Mean level of serum hepcidin was lower in COPD subjects with iron deficiency(p=0.004) and serum levels of hepcidin was negatively correlated with %$FEV_1$ predicted(p=0.030). Conclusions: These results suggest that high serum levels of hepcidin are related to severe airflow limitation or inflammation and can decrease iron availability, regardless of iron status.

• Nutritional Sciences
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• v.7 no.4
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• pp.218-222
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• 2004

Iron deficiency anemia (IDA) is the world's most common nutritional problem. It is characterized by a low hemoglobin (Hb) level and low iron status. A study was conducted to investigate the incidence of iron deficiency anemia in day scholar girls belonging to different socioeconomic strata at Punjab University, Lahore. Iron status of the subjects was estimated by measuring Hb, hematocrit (Hct), red blood cell (RBC) count, mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCR), serum iron, serum ferritin, total protein and albumin. Results indicated that females belonging to low socioeconomic strata had lower values for Hb, Hct, RBC count, total protein and albumin. Serum iron, serum ferritin, MCV and MCH values fell within the normal range for all of the socioeconomic groups. However, serum iron and ferritin varied with socioeconomic status and higher-income groups had significantly higher serum iron and ferritin. It was concluded that anemia may develop due to poor intake and absorption of iron and that those in the low-income bracket are the most affected group.

• Clinical and Experimental Pediatrics
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• v.59 no.sup1
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• pp.29-31
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• 2016

Glucose transport 1 (GLUT-1) deficiency is a rare syndrome caused by mutations in the glucose transporter 1 gene (SLC2A1) and is characterized by early-onset intractable epilepsy, delayed development, and movement disorder. De novo mutations and several hot spots in N34, G91, R126, R153, and R333 of exons 2, 3, 4, and 8 of SLC2A1 are associated with this condition. Seizures, one of the main clinical features of GLUT-1 deficiency, usually develop during infancy. Most patients experience brief and subtle myoclonic jerk and focal seizures that evolve into a mixture of different types of seizures, such as generalized tonic-clonic, absence, myoclonic, and complex partial seizures. Here, we describe the case of a patient with GLUT-1 deficiency who developed infantile spasms and showed delayed development at 6 months of age. She had intractable epilepsy despite receiving aggressive antiepileptic drug therapy, and underwent a metabolic workup. Cerebrospinal fluid (CSF) examination showed CSF-glucose-to-blood-glucose ratio of 0.38, with a normal lactate level. Bidirectional sequencing of SLC2A1 identified a missense mutation (c.1198C>T) at codon 400 (p.Arg400Cys) of exon 9.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.27 no.1
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• pp.71-76
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• 2024

Recurrence of progressive familial intrahepatic cholestasis (PFIC) type II poses challenges during postoperative liver transplant care. Posttransplant patients with PFIC type II risk developing recurrent cholestasis with normal gamma-glutamyl transferase activity, which mimics the original bile salt export pump (BSEP) protein deficiency and is related to a form of immunoglobulin G antibody (anti-BSEP)-mediated rejection. Bortezomib effectively induces apoptosis of actively antibody-producing plasma cells that may have a role in antibodymediated rejection. In this case, we used bortezomib to treat PFIC type II recurrence after liver transplantation in a child.

• Journal of Animal Reproduction and Biotechnology
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• v.35 no.1
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• pp.102-111
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• 2020

Nitric oxide (NO)-induced protein S-nitrosylation triggers mitochondrial dysfunction and was related to cell senescence. However, the exact mechanism of these damages is not clear. In the present study, to investigate the relationship between in vitro aging and NO-induced protein S-nitrosylation, oocytes were treated with sodium nitroprusside dihydrate (SNP), and the resultant S-nitrosylated proteins were detected through biotin-switch assay. The results showed that levels of protein S-nitroso thiols (SNO)s and expression of S-nitrosoglutathione reductase (GSNOR) increased, while activity and function of mitochondria were impaired during oocyte aging. Addition of SNP, a NO donor, to the oocyte culture led to accelerated oocyte aging, increased mitochondrial dysfunction and damage, apoptosis, ATP deficiency, and enhanced ROS production. These results suggested that the increased NO signal during oocyte aging in vitro, accelerated oocyte degradation due to increased protein S-nitrosylation, and ROS-related redox signaling.

• Asian-Australasian Journal of Animal Sciences
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• v.9 no.6
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• pp.701-703
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• 1996

The influence of phenylalanine (Phe) in the medium on protein synthesis of chicken embryo fibroblasts (CEF) was examined. CEF was derived from 9-d-old embryos by trypsin-EDTA digestion. To examine the deficiency of Phe in the medium, CEF was cultured in Dulbecco's modified Eagle's medium (DMEM) with or without Phe. CEF was also cultured in Dulbecco's phosphate buffered saline (PBS ($Ca^{2+}$, $Mg^{2+}$)) with or without $400{\mu}m$ Phe in order to examine the effect of Phe supplementation. All media were supplemented with 10% (v/v) fetal calf serum. After incubation for 6, 30 and 54 h, protein synthesis was measured by the incorporation of L-[2, $6-^{3}H$] Phe into CEF for further 18 h. Protein synthesis of CEF cultured in DMEM was higher than that in PBS ($Ca^{2+}$, $Mg^{2+}$). High specific radioactivity of Phe due to the low concentration of Phe in the medium resulted in the apparent increase in protein synthesis of CEF. Protein synthesis cultured in PBS ($Ca^{2+}$, $Mg^{2+}$) with Phe did not increase during 72 h of cell culture.

• Journal of Animal Science and Technology
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• v.58 no.8
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• pp.29.1-29.10
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• 2016

Background: It is known that large dogs who are fed lamb and rice diets are at increased risk to develop taurine-deficiency-induced dilated cardiomyopathy. Since dogs obligatorily conjugate bile acids (BA) with taurine, we determined whether rice bran (RB) or other fibers (cellulose; CL, beet pulp; BP) would affect BA excretion and/or the taurine status of dogs. Results: Eighteen medium/large mixed-breed dogs were given purified diets containing CL, BP, or RB for 12 weeks. Taurine concentrations in plasma and whole blood were significantly decreased at week 12. The BP group, compared to the CL or RB groups, showed significantly lower taurine concentrations in plasma ($6.5{\pm}0.5$ vs $20.4{\pm}3.9$ and $13.1{\pm}2.0{\mu}mol/L$, respectively, P < 0.01, $mean{\pm}SEM$) and in whole blood ($79{\pm}10$ vs $143{\pm}14$ and $127{\pm}14{\mu}mol/L$, respectively, P < 0.01), lower apparent protein digestibility ($81.9{\pm}0.6$ vs $88.8{\pm}0.6$ and $88.1{\pm}1.2%$, respectively, P < 0.01), and higher BA excretions ($5.6{\pm}0.1$ vs $3.4{\pm}0.5$ and $3.4{\pm}0.4{\mu}mol/g$ feces, respectively, P < 0.05) at week 12. Conclusions: These results do not support the hypothesis that RB is likely to be a primary cause of lamb meal and rice diets, increasing the risk of taurine deficiency in large dogs. However these indicate that BP may contribute to a decrease taurine status in dogs by increasing excretion of fecal BA and decreasing protein digestibility, thus decreasing the bioavailability of sulfur amino acids, the precursors of taurine.