• Molecules and Cells
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• v.37 no.7
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• pp.518-525
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• 2014

Gammaherpesvirus (${\gamma}HV$) infection of the central nervous system (CNS) has been implicated in diverse neurological diseases, and murine ${\gamma}HV$-68 (MHV-68) is known to persist in the brain after cerebral infection. The underlying molecular mechanisms of persistency of virus in the brain are poorly understood. Here, we characterized a unique pattern of MHV-68 persistent infection in neuroblastoma cells. On infection with MHV-68, both murine and human neuroblastoma cells expressed viral lytic proteins and produced virions. However, the infected cells survived productive infection and could be cultured for multiple passages without affecting their cellular growth. Latent infection as well as productive replication was established in these prolonged cultures, and lytic replication was further increased by treatment with lytic inducers. Our results provide a novel system to study persistent infection of ${\gamma}HVs$ in vitro following de novo infection and suggest application of MHV-68 as a potential gene transfer vector to the brain.

• Journal of Genetic Medicine
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• v.2 no.2
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• pp.49-51
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• 1998

Wolf-Hirschhorn syndrome (WHS) is caused by a deletion of the short arm on chromosome 4 and is characterized by multiple congenital abnormalities, growth and mental retardation. In this case report, we performed amniocentesis for the chromosome analysis on a 25-year-old pregnant woman at 16 weeks of gestation whom we suspected of Edward's syndrome by the triple test of maternal serum and ultrasonography. The result of analysis revealed a karyotype of the fetus with 46,XY,del(4)(p15) by trypsin Giemsa's banding technique. With the result, we were able to diagnose the fetus as having WHS. As such, after therapeutic termination of the pregnancy, we confirmed WHS through the sampling of tissue by both trypsin Giemsa's banding and fluorescence in situ hybridization (FISH) method. To determine the origin of the WHS, we further tested the karyotypes of the parents. As parental karyotypes were found to be normal, we determined the case of the fetal WHS to be de novo.

• BMB Reports
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• v.45 no.10
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• pp.589-594
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• 2012

Paclitaxel is produced by various species of yew trees and has been extensively used to treat tumors. In our research, a taxadiene synthase (TS) gene from Taxus brevifolia was used to transform the roots of cultured ginseng (Panax ginseng C.A. Meyer) to produce taxadiene, the unique skeletal precursor to taxol. The TS gene was successfully introduced into the ginseng genome, and the de novo formation of taxadiene was identified by mass spectroscopy profiling. Without any change in phenotypes or growth difference in a TS-transgenic ginseng line, the transgenic TSS3-2 line accumulated $9.1{\mu}g$ taxadiene per gram of dry weight. In response to the treatment of methyl jasmonate for 3 or 6 days, the accumulation was 14.6 and $15.9{\mu}g$ per g of dry weight, respectively. This is the first report of the production of taxadiene by engineering ginseng roots with a taxadiene synthase gene.

• BMB Reports
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• v.50 no.9
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• pp.478-483
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• 2017

Budding yeast has dozens of prions, which are mutually dependent on each other for the de novo prion formation. In addition to the interactions among prions, transmissions of prions are strictly dependent on two chaperone systems: the Hsp104 and the Hsp70/Hsp40 (J-protein) systems, both of which cooperatively remodel the prion aggregates to ensure the multiplication of prion entities. Since it has been postulated that prions and the remodeling factors constitute complex networks in cells, a quantitative approach to describe the interactions in live cells would be required. Here, the researchers applied dual-color fluorescence cross-correlation spectroscopy to investigate the molecular network of interaction in single live cells. The findings demonstrate that yeast prions and remodeling factors constitute a network through heterogeneous protein-protein interactions.

• Journal of Genetic Medicine
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• v.10 no.2
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• pp.104-108
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• 2013

Purpose: This study was designed to confirm whether the paracentric inversions of fetuses and parents may be harmless. Materials and methods: We report 10 cases (0.14%) with paracentric inversions among 7,181 prenatal cases observed during prenatal diagnosis performed at Cheil General Hospital between January 2009 and June 2013. We used cytogenetic GTL- and RBG-banding techniques. Results: Of the 10 cases, nine cases were transmitted from each of the parents, and one case was de novo. Nine cases were phenotypically normal up to one month of age after birth. One case was lost to follow-up. We present prenatal diagnosis and follow-up examination of the fetuses with paracentric inversion. Conclusion: Based on our cases, most paracentric inversions are considered to be harmless. The precise identification of paracentric inversions might be clinically important and helpful for genetic counseling.

• Neonatal Medicine
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• v.15 no.2
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• pp.200-206
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• 2008

Human chromosome 9 is characterized by a high degree of morphologic heteromorphisms, including variation in the size of the heterochromatin. We present a case of a de novo short arm addition of chromosome 9, [46, XY, add(9)(p13)], associated with multiple anomalies, including trigonocephaly, upward slant of the palpebral fissures, patent ductus arteriosus, pulmonary hypertension, hypertrophic cardiomyopathy, umbilical hernia, ambiguous genitalia, and sensorineural hearing and visual loss. This mutation affects the pericentric region of the heterochromatin. This patient exhibited a clinically important breakpoint of the heterochromatic region of chromosome 9 short arm and the associated anomalies.

• Asian Pacific Journal of Cancer Prevention
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• v.17 no.3
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• pp.1535-1537
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• 2016

Background: Primary myelodysplastic syndrome (MDS) is an acquired clonal disorder of myeloid progenitor cells, characterized by peripheral cytopenias in the presence of hypercellular marrow with dysplastic features. Our aim was to study the demographical and clinicopathological features of adult Pakistani patients with MDS at disease presentation. Materials and Methods: This single centre study was conducted at Liaquat National Hospital and Medical College, extending from January 2010 to December 2014. Data were retrieved from the patient archives. Results: Overall 45 patients were diagnosed at our institution with de novo MDS during the study period. There were 28 males and 17 females. Age ranged between 18 and 95 years with a mean age of $57.6{\pm}17.4years$ and median of 64 years. The male to female ratio was 1.7:1. The main presenting complaints were generalized fatigue (60%), fever (33.3%), dyspnea (15.5%), bleeding (13.3%) and weight loss (11.1%). Examination was unremarkable in 42.2% of patients. Physical examination revealed pallor in 37.7%, followed by petechial and purpuric rashes in 20%. The commonest laboratory finding was anemia (hemoglobin < 10 g/dl in 41 (91.1%) patients. Out of these, 27 (60%) patients had normocytic anemia, followed by macrocytic (22.2%) and microcytic (8.8%). Conclusions: Primary MDS in Pakistani patients demonstrates a male preponderance. The proportion of anemic patients was high in our series with predominance of normocytic anemia. However, other clinico-hematological features appear comparable to published data.

• Asian Pacific Journal of Cancer Prevention
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• v.13 no.12
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• pp.6087-6091
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• 2012

Context: Patients diagnosed with a cancer have a life time risk of developing another de novo malignancy depending on various inherited, environmental and iatrogenic risk factors. Of late the detection of new primary has increased mainly due to refinement in both diagnostic and treatment modalities. Cancer victims are surviving longer and thus are more likely to develop a new metachronous malignancy. Aims: To report our observed trend of increase in prevalence of both synchronous and metachronous second malignant neoplasms among cancer victims and to review the relevant literature. Settings and Design: A hospital based retrospective collection of prospective data of patients diagnosed with second denovo malignancy. Materials and Method: The study was conducted over a 5 year period from July 2008 to June 2012. All patients diagnosed with a histologically proven second malignancy as per Warren Gate's criteria were included. Various details regarding sex, age at presentation, synchronous or metachronous, treatment and outcome were recorded. Conclusions: The occurrence of multiple primary malignancies is not rare. Awareness of the possibility alerts the clinician in evaluation of patients with a known malignancy presenting with unusual sites of metastasis. Individualizing the treatment according to the stages of the primaries will result in durable cancer control particularly in synchronous double malignancy.

• Development and Reproduction
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• v.20 no.2
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• pp.127-133
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• 2016

Purine metabolism is known factor for nuclear maturation of oocytes through both follicle cells and oocyte itself. However, it is largely unknown the roles of purine metabolism in the oocyte competence for fertilization and early development. In this study, the effects of adenosine in oocyte competence for development were examined using adenosine and its synthetic inhibitors. Adenosine treatment from GV intact stage for 18 hr (fGV) caused of decrease the fertilization rate but of increase the cleavage rate compared from the other stage treatment groups. Hadacidin did not effect on fertilization rate but increased cleavage rate without stage specificity. Adenosine did not block the effects of hadacidin with the exception of fGV group. Inhibition of purine synthetic pathways the fertilization rate was decreased in the fGV and fGVB groups but increased in the fMII group. Exogenous adenosine caused of decrease fertilization rate in the fGVB group but increase in the fMII group. Cleavage rate was dramatically increased in the adenosine treatment with synthetic inhibitors. It means that the metabolism of purine has stage specific effects on fertilization and cleavage. Exogenous adenosine had only can improve oocyte developmental competence when it treated at GV intact stage. On the other hand, endogenous synthesis in all maturation stage cause of increase the cleavage rate without effects on fertilization. These data suggest that adenosine at GV stage as a paracrine fashion and inhibitions of endogenous adenosine in all stage improve oocyte developmental competence.

• Asian-Australasian Journal of Animal Sciences
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• v.29 no.11
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• pp.1646-1652
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• 2016

Mammalian target of rapamycin complex 1 (mTORC1) is a central regulator of cell growth and metabolism and is sufficient to induce specific metabolic processes, including de novo lipid biosynthesis. Elongation of very-long-chain fatty acids 1 (ELOVL1) is a ubiquitously expressed gene and the product of which was thought to be associated with elongation of carbon (C) chain in fatty acids. In the present study, we examined the effects of rapamycin, a specific inhibitor of mTORC1, on ELOVL1 expression and docosahexaenoic acid (DHA, C22:6 n-3) synthesis in bovine mammary epithelial cells (BMECs). We found that rapamycin decreased the relative abundance of ELOVL1 mRNA, ELOVL1 expression and the level of DHA in a time-dependent manner. These data indicate that ELOVL1 expression and DHA synthesis are regulated by mTORC1 in BMECs.