A REVIEW ON LIPOMA AND ITS GENETIC INTERVENTIONS

Author(s):  
Jisa Elizabath Sabu ◽  
Bharat Mishra ◽  
Angelin Jaimon Augustine ◽  
Aleesha R

Lipomas are benign soft tissue fatty tumours that most commonly appear in the third decade of life when fatty tissue accumulates. Histologically, lipoma is composed of mature fat cells with a thin fibrous capsule. Simple lipomas account for 80% of adipose tissue tumours. The aetiology may be genetic like Familial Multiple Lipomatosis. Some tumours, like the well differentiated Liposarcomas never metastasize unless they undergo de-differentiation. They can be introduced as Atypical Lipomatous Tissue, ALT. Southern blot analysis is performed by obtaining DNA from ALT, cases in which most of them are characterized by the presence of supernumerary ring and long marker chromosomes. The complex chromosome region contains genes MDM2, CDK4, HMGI- C, SAS, GLI, CHOP, OS4 and OSP. Most of ALTs, after analysis revealed amplification of CDK4 and MDM2 proto- oncogenes that play major role in permitting over ride of block operated on cell proliferation.  Immuno-histochemical results have shown MDM2 over expression in about 50% of ALTs along with weak CDK4 immuno-positivity. Also the lipomas with Gene fusion transcripts have the expression of certain genes, HMGA2/LPP, HMGA2/RDCI and HMGA2/NFIB. Of these 98% of cases were analyzed for the possible expression of HMGA2/LPP and LPP- HMGA2 fusion genes using reverse transcription polymerase chain reaction. Over all these cases, shows non-enhanced adipocyte apoptosis and enhanced adipogenesis in lipoma tissue. Thus studies provide insights into molecular pathogenesis of lipomatous tumour and representation of distinctive subset of mesenchymal neoplasms with mature adipocyte differentiation.

2007 ◽  
Vol 59 (2) ◽  
pp. 89-95 ◽  
Author(s):  
Danijela Drakulic ◽  
Gordana Nikcevic ◽  
Vesna Djordjevic ◽  
Milena Stevanovic

Fluorescent in situ hybridization (FISH) has become a widespread technique applicable in basic science and diagnostics. Chromosome painting represents a special application of FISH that has found increasing use in identification of complex chromosome rearrangements. Here we present a version of the Alu-PCR method modified to generate a whole chromosome painting probe (WCP) for human chromosome 19 using monochromosomal cell hybrids. In setting up conditions for this method, we established a cheap and fast approach to generation of WCPs for other human chromosomes that could be particularly useful for unambiguous identification of complex chromosomal rearrangements associated with cancer. .


Author(s):  
Maryam Moazeni ◽  
Mohammad Taghi Hedayati ◽  
Mojtaba Nabili

  Background and Purpose: Candida albicans is a prevalent human fungal pathogen that can cause a wide spectrum of diseases, from superficial mucosal infections to systemic disorders, in patients with impaired immunity. Glabridin is a pyranoisoflavan originally extracted from root extract of Glycyrrhiza glabra. Glabridin can also mediate apoptosis in yeast cells by changing the mitochondrial membrane potential, activation of caspase-like proteases, and DNA cleavage. The aim of this study was to investigate the mechanism of action of glabridin in C. albicans. Materials and Methods: Candida albicans ATCC14053 was applied as the standard strain. Total RNA was extracted from the isolate under glabridin-treated and untreated conditions. To evaluate the alternations in the apoptosis inducing factor (AIF) gene expression, real-time polymerase chain reaction (real-time -PCR) was performed, and the obtained data were analyzed using REST software. Results: Expression of the AIF gene was represented as the ratio of expression relative to the reference gene. According to the REST® output, the expression of the AIF gene increased significantly (P<0.05) under the glabridin-treated condition. Conclusion: Our results suggested that glabridin may induce apoptosis through the caspase-independent route and might be considered as an anti-Candida agent.


2015 ◽  
Vol 2015 ◽  
pp. 1-9 ◽  
Author(s):  
Maryam B. Khadzhieva ◽  
Dmitry S. Kolobkov ◽  
Svetlana V. Kamoeva ◽  
Anastasia V. Ivanova ◽  
Serikbay K. Abilev ◽  
...  

Pelvic organ prolapse (POP) is a common highly disabling disorder with a large hereditary component. It is characterized by a loss of pelvic floor support that leads to the herniation of the uterus in or outside the vagina. Genome-wide linkage studies have shown an evidence of POP association with the region 9q21 and six other loci in European pedigrees. The aim of our study was to test the above associations in a case-control study in Russian population. Twelve SNPs including SNPs cited in the above studies and those selected using the RegulomeDB annotations for the region 9q21 were genotyped in 210 patients with POP (stages III-IV) and 292 controls with no even minimal POP. Genotyping was performed using the polymerase chain reaction with confronting two-pair primers (PCR–CTPP). Association analyses were conducted for individual SNPs, 9q21 haplotypes, and SNP-SNP interactions. SNP rs12237222 with the highest RegulomeDB score 1a appeared to be the key SNP in haplotypes associated with POP. Other RegulomeDB Category 1 SNPs, rs12551710 and rs2236479 (scores 1d and 1f, resp.), exhibited epistatic effects. In this study, we verified the region 9q21 association with POP in Russians, using RegulomeDB annotations.


2014 ◽  
Vol 6 (4) ◽  
Author(s):  
Shane McTighe ◽  
Ivan Chernev

Lipomas are the most common type of soft tissue mesenchymal tumors. They are typically located subcutaneously and consist of mature fatty tissue. When they occur under the enclosing fascia, they are called deep-seated lipomas. Infrequently, lipomas can arise inside the muscle and are called intramuscular lipomas. Intramuscular lipomas have been commonly investigated and categorized in the same group as other deep-seated and superficial lipomatous lesions. Their clinical, histological and imaging characteristics may resemble well-differentiated liposarcomas, further adding to the difficulties in the differential diagnosis. This article summarizes the available literature and describes the typical epidemiological, pathological and clinical features of intramuscular lipomas, as well as delineating their treatment and prognosis.


Sarcoma ◽  
2010 ◽  
Vol 2010 ◽  
pp. 1-4 ◽  
Author(s):  
J. Patel ◽  
R. Deb ◽  
W. Speake ◽  
T. A. MacCulloch

Primary small intestinal liposarcomas originating in the small bowel are uncommon with a generally poor prognosis due to the advanced stage at the time of diagnosis. We describe a case of primary small bowel dedifferentiated liposarcoma presenting as a solid mass in the right iliac fossa. The current case is unusual as the tumour seemingly originated from the bowel and the well-differentiated component was seen extensively infiltrating the bowel wall including the small bowel submucosa.


2010 ◽  
Vol 6 (2) ◽  
pp. 113-125 ◽  
Author(s):  
Shiquen Zhang ◽  
Baoman Li ◽  
Ditte Lovatt ◽  
Junnan Xu ◽  
Dan Song ◽  
...  

In well-differentiated primary cultures of mouse astrocytes, which express no serotonin transporter (SERT), the ‘serotonin-specific reuptake inhibitor’ (SSRI) fluoxetine leads acutely to 5-HT2B receptor-mediated, transactivation-dependent phosphorylation of extracellular regulated kinases 1/2 (ERK1/2) with an EC50 of ~5 μM, and chronically to ERK1/2 phosphorylation-dependent upregulation of mRNA and protein expression of calcium-dependent phospholipase A2 (cPLA2) with ten-fold higher affinity. This affinity is high enough that fluoxetine given therapeutically may activate astrocytic 5-HT2B receptors (Li et al., 2008, 2009). We now confirm the expression of 5-HT2B receptors in astrocytes freshly dissociated from mouse brain and isolated by fluorescence-activated cell sorting (FACS) and investigate in cultured cells if the effects of fluoxetine are shared by all five conventional SSRIs with sufficiently high affinity to be relevant for mechanism(s) of action of SSRIs. Phosphorylated and total ERK1/2 and mRNA and protein expression of cPLA2a were determined by Western blot and reverse transcription polymerase chain reaction (RT-PCR). Paroxetine, which differs widely from fluoxetine in affinity for SERT and for another 5-HT2 receptor, the 5-HT2C receptor, acted acutely and chronically like fluoxetine. One micromolar of paroxetine, fluvoxamine or sertraline increased cPLA2a expression during chronic treatment; citalopram had a similar effect at 0.1–0.5 μM; these are therapeutically relevant concentrations.


Author(s):  
Shunming Zhu ◽  
Gong Cheng ◽  
Huolan Zhu ◽  
Gongchang Guan

AbstractWith the use of the microarray technique, genes expressed in the late phase of adipocyte differentiation were investigated. These genes play an important role in stimulating adipocyte growth and lipid droplet formation. Therefore, they contribute a great deal to the onset of obesity.With the use of SW872 adipocytes and the microarray technique, genes related to adipocyte differentiation were tested and compared with undifferentiated preadipocytes 14 days after induction. Real-time reverse transcription polymerase chain reaction (RT-PCR) was used for confirmation.More than 21,329 transcriptors were expressed and determined, of which 1326 increased and 687 decreased undifferentiated adipocytes. Among them, 21 were highly expressed by more than 10-fold. With RT-PCR, 12 were confirmed, including apelin, CIDEC, PID1, LYRM1, ADD1, PPARγ2, ANGPTL4, ADIPOQ, ACOX1, FIP1L1, MAP3K2 and PEX14. Furthermore, genes involved in lipid metabolism, signal transduction, DNA replication, redox status and transcription factors were determined as well. Novel genes involved in adipogenesis (e.g., apelin) were detected.A variety of genes were discovered and validated with RT-PCR at the late phase of adipocyte differentiation. This may help us better understand the onset of obesity and the potential role of adipocytes in other organs.


2011 ◽  
Vol 2011 ◽  
pp. 1-9 ◽  
Author(s):  
Jun Nishio

Over the last 20 years, a number of tumor-specific chromosomal translocations and associated fusion genes have been identified for mesenchymal neoplasms including adipocytic tumors. The addition of molecular cytogenetic techniques, especially fluorescence in situ hybridization (FISH), has further enhanced the sensitivity and accuracy of detecting nonrandom chromosomal translocations and/or other rearrangements in adipocytic tumors. Indeed, most resent molecular cytogenetic analysis has demonstrated a translocation t(11;16)(q13;p13) that produces aC11orf95-MKL2fusion gene in chondroid lipoma. Additionally, it is well recognized that supernumerary ring and/or giant rod chromosomes are characteristic for atypical lipomatous tumor/well-differentiated liposarcoma and dedifferentiated liposarcoma, and amplification of 12q13–15 involving theMDM2,CDK4, andCPMgenes is shown by FISH in these tumors. Moreover, myxoid/round cell liposarcoma is characterized by a translocation t(12;16)(q13;p11) that fuses theDDIT3andFUSgenes. This paper provides an overview of the role of conventional cytogenetics and molecular cytogenetics in the diagnosis of adipocytic tumors.


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