scholarly journals Clinical Presentation and Gene Expression of Acute Alcohol‐Induced Microvesicular Steatosis Mimicking Alcoholic Hepatitis

2021 ◽  
Author(s):  
Laurent Spahr ◽  
Nicolas Lanthier ◽  
Mathieu Tihy ◽  
Jean‐Louis Frossard ◽  
Laura Rubbia‐Brandt ◽  
...  
Keyword(s):  
Gene Expression ◽  
Alcoholic Hepatitis ◽  
Clinical Presentation ◽  
Microvesicular Steatosis

scholarly journals Epigenetic Insights and Potential Modifiers as Therapeutic Targets in β–Thalassemia

Biomolecules ◽  
2021 ◽  
Vol 11 (5) ◽  
pp. 755
Author(s):  
Nur Atikah Zakaria ◽  
Md Asiful Islam ◽  
Wan Zaidah Abdullah ◽  
Rosnah Bahar ◽  
Abdul Aziz Mohamed Yusoff ◽  
...  
Keyword(s):  
Gene Expression ◽  
Clinical Presentation ◽  
Globin Gene ◽  
Fetal Hemoglobin ◽  
Dna Hypomethylation ◽  
Considerable Research ◽  
Non Coding Rna ◽  
Hbf Level ◽  
Long Non Coding Rna ◽  
Globin Gene Expression

Thalassemia, an inherited quantitative globin disorder, consists of two types, α– and β–thalassemia. β–thalassemia is a heterogeneous disease that can be asymptomatic, mild, or even severe. Considerable research has focused on investigating its underlying etiology. These studies found that DNA hypomethylation in the β–globin gene cluster is significantly related to fetal hemoglobin (HbF) elevation. Histone modification reactivates γ-globin gene expression in adults and increases β–globin expression. Down-regulation of γ–globin suppressor genes, i.e., BCL11A, KLF1, HBG-XMN1, HBS1L-MYB, and SOX6, elevates the HbF level. β–thalassemia severity is predictable through FLT1, ARG2, NOS2A, and MAP3K5 gene expression. NOS2A and MAP3K5 may predict the β–thalassemia patient’s response to hydroxyurea, a HbF-inducing drug. The transcription factors NRF2 and BACH1 work with antioxidant enzymes, i.e., PRDX1, PRDX2, TRX1, and SOD1, to protect erythrocytes from oxidative damage, thus increasing their lifespan. A single β–thalassemia-causing mutation can result in different phenotypes, and these are predictable by IGSF4 and LARP2 methylation as well as long non-coding RNA expression levels. Finally, the coinheritance of β–thalassemia with α–thalassemia ameliorates the β–thalassemia clinical presentation. In conclusion, the management of β–thalassemia is currently limited to genetic and epigenetic approaches, and numerous factors should be further explored in the future.

scholarly journals Defective HNF4alpha-dependent gene expression as a driver of hepatocellular failure in alcoholic hepatitis

2019 ◽  
Vol 10 (1) ◽  
Author(s):  
Josepmaria Argemi ◽  
Maria U. Latasa ◽  
Stephen R. Atkinson ◽  
Ilya O. Blokhin ◽  
Veronica Massey ◽  
...  
Keyword(s):  
Gene Expression ◽  
Alcoholic Hepatitis

scholarly journals T-cell lymphoblastic lymphoma and leukemia: different diseases from a common premalignant progenitor?

2020 ◽  
Vol 4 (14) ◽  
pp. 3466-3473
Author(s):  
Emma Kroeze ◽  
Jan L. C. Loeffen ◽  
Vera M. Poort ◽  
Jules P. P. Meijerink
Keyword(s):  
Gene Expression ◽  
T Cell ◽  
Clinical Presentation ◽  
Lymphoblastic Leukemia ◽  
Precursor Cell ◽  
Lymphoblastic Lymphoma ◽  
Leukemia Cells ◽  
Driver Mutations ◽  
Lymphoid Tissues ◽  
Genetic Profiles

Abstract T-cell lymphoblastic lymphoma (T-LBL) and lymphoblastic leukemia (T-ALL) represent malignancies that arise from the transformation of immature precursor T cells. Similarities in T-LBL and T-ALL have raised the question whether these entities represent 1 disease or reflect 2 different diseases. The genetic profiles of T-ALL have been thoroughly investigated over the last 2 decades, whereas fairly little is known about genetic driver mutations in T-LBL. Nevertheless, the comparison of clinical, immunophenotypic, and molecular observations from independent T-LBL and T-ALL studies lent strength to the theory that T-LBL and T-ALL reflect different presentations of the same disease. Alternatively, T-LBL and T-ALL may simultaneously evolve from a common malignant precursor cell, each having their own specific pathogenic requirements or cellular dependencies that differ among stroma-embedded blasts in lymphoid tissues compared with solitary leukemia cells. This review aims to cluster recent findings with regard to clinical presentation, genetic predisposition, and the acquisition of additional mutations that may give rise to differences in gene expression signatures among T-LBL and T-ALL patients. Improved insight in T-LBL in relation to T-ALL may further help to apply confirmed T-ALL therapies to T-LBL patients.

scholarly journals Microvesicular Steatosis Induced by a Short Chain Fatty Acid: Effects on Mitochondrial Function and Correlation with Gene Expression

2004 ◽  
Vol 32 (2_suppl) ◽  
pp. 19-25 ◽  
Author(s):  
Robert A. Jolly ◽  
Rita Ciurlionis ◽  
David Morfitt ◽  
Mary Helgren ◽  
Reid Patterson ◽  
...  
Keyword(s):  
Gene Expression ◽  
Fatty Acid ◽  
Mitochondrial Function ◽  
Short Chain Fatty Acid ◽  
Chain Fatty Acid ◽  
Short Chain ◽  
Microvesicular Steatosis

Abnormal hepatic gene expression in methionine metabolism and reduced sadenosylmethionine levels in patients with alcoholic hepatitis

2003 ◽  
Vol 124 (4) ◽  
pp. A746
Author(s):  
Taunia D. Lee ◽  
Mamatha Sadda ◽  
Teodoro Bottiglieri ◽  
Gary Kanel ◽  
Michel H. Mendler ◽  
...  
Keyword(s):  
Gene Expression ◽  
Alcoholic Hepatitis ◽  
Hepatic Gene Expression ◽  
Methionine Metabolism

scholarly journals Recent advances in alcoholic hepatitis

F1000Research ◽  
2020 ◽  
Vol 9 ◽  
pp. 97
Author(s):  
Vikrant Rachakonda ◽  
Ramon Bataller ◽  
Andres Duarte-Rojo
Keyword(s):  
Alcoholic Hepatitis ◽  
Alcohol Use Disorder ◽  
Multidisciplinary Approach ◽  
Clinical Presentation ◽  
Treatment Modalities ◽  
Addiction Counseling ◽  
Novel Treatment ◽  
The Impact ◽  
Care Costs ◽  
Selection Of

Alcoholic hepatitis is the severest clinical presentation of alcoholic liver disease. Lacking an effective pharmacologic treatment, alcoholic hepatitis is associated with a poor prognosis and its recovery relies mostly on abstinence. With alcohol use disorder being universally on the rise, the impact of alcoholic hepatitis on society and health-care costs is expected to increase significantly. Prognostic factors and liver biopsy can help with timely diagnosis, to determine eligibility and response to corticosteroids, and for prognostication and transplant referral. Although recent discoveries in the pathophysiology of alcoholic hepatitis are encouraging and could pave the way for novel treatment modalities, a multidisciplinary approach considering timely identification and treatment of liver-related complications, infectious and metabolic disease, malnutrition, and addiction counseling should be emphasized. Apart from proper selection of candidates, transplant programs should provide adequate post-transplant addiction support in order to make of early liver transplantation for alcoholic hepatitis the ultimate sobering experience in the next decade.

scholarly journals Semaphorin 3C exacerbates liver fibrosis

2021 ◽  
Author(s):  
Francesca De Angelis Rigotti ◽  
Lena Wiedmann ◽  
Max Ole Hubert ◽  
Margherita Vacca ◽  
Sana S. Hasan ◽  
...  
Keyword(s):  
Gene Expression ◽  
Chronic Hepatitis ◽  
Liver Fibrosis ◽  
Axon Guidance ◽  
Hepatic Stellate Cells ◽  
Alcoholic Hepatitis ◽  
Target Gene ◽  
Stellate Cells ◽  
Cirrhotic Patients ◽  
Marker Expression

Background: Chronic liver disease is a growing epidemic leading to fibrosis and cirrhosis. TGF-β is the pivotal pro-fibrogenic cytokine which activates hepatic stellate cells (HSC), yet, other molecules can substantially modulate TGF-β signalling in the course of liver fibrosis. Expression of the axon guidance molecules Semaphorins (SEMAs), which signal through Plexins and Neuropilins (NRPs), have been associated with liver fibrosis in HBV-induced chronic hepatitis. However, their function in the regulation of HSCs has not yet been described. Results: SEMA3C is the most enriched member of the Semaphorin family in liver samples from cirrhotic patients. Higher expression of SEMA3C in patients with NASH, alcoholic hepatitis or HBV-induced hepatitis discriminates those with a more pro-fibrotic transcriptomic profile. SEMA3C expression is also elevated in different mouse models of liver fibrosis and in isolated HSCs upon activation. In keeping with this, deletion of SEMA3C in activated HSCs reduces myofibroblast marker expression. Conversely, SEMA3C overexpression exacerbates TGF-β-mediated myofibroblast activation, as shown by increased SMAD2/3 phosphorylation and target gene expression. Among SEMA3C receptors, only NRP2 expression is maintained upon activation of isolated HSCs. Interestingly, lack of NRP2 in those cells reduces myofibroblast marker expression. Finally, deletion of either SEMA3C or NRP2, specifically in activated HSCs, reduces liver fibrosis in mice. Conclusion: SEMA3C is a novel marker for activated HSCs that plays a fundamental role in the acquisition of the myofibroblastic phenotype and liver fibrosis.

scholarly journals Patterns of cytokine gene expression in infectious mononucleosis

Blood ◽  
1994 ◽  
Vol 83 (3) ◽  
pp. 707-712 ◽  
Author(s):  
HD Foss ◽  
H Herbst ◽  
M Hummel ◽  
I Araujo ◽  
U Latza ◽  
...  
Keyword(s):  
Gene Expression ◽  
Infectious Mononucleosis ◽  
Clinical Presentation ◽  
Gene Expression Pattern ◽  
Cytokine Gene Expression ◽  
Tnf Alpha ◽  
High Signal ◽  
Cytokine Gene ◽  
Necrosis Factor Alpha ◽  
Infected Cells

Abstract Primary infection with Epstein-Barr virus (EBV) may arise as infectious mononucleosis (IM) in adolescents and young adults. Morphologically, IM- affected lymphoid tissue is characterized by expanded interfollicular areas with formation of atypical lymphoid blasts. It is assumed that morphology and clinical presentation of IM are related to characteristic patterns of cytokine production by EBV-infected and reactive cells. We studied IM tonsils of eight patients and six normal tonsils with a double in situ hybridization procedure using [35S]- labeled RNA probes specific for various cytokines and digoxigenin- labeled probes for the detection of the nuclear EBV encoded RNA transcripts, EBER 1 and 2. All of the IM cases displayed the same distinct cytokine gene expression pattern. When compared with interfollicular areas of normal tonsils, expression of lymphotoxin (LT), tumor necrosis factor-alpha (TNF-alpha), interleukin-6 (IL-6), and IL-1 beta, but not IL-8 or IL-1 alpha was strongly enhanced in interfollicular areas in IM tonsils. LT was expressed predominantly by EBV-infected cells. TNF-alpha transcripts were also present in EBV- infected cells, although in smaller proportions. IL-6 specific signals were only found in few EBV-infected cells. IL-1 alpha-, IL-1 beta-, and IL-8-specific signals were not observed in EBV-infected cells, but were present at high signal intensity in many cells within and around foci of EBV-infected cells (IL-1 beta), next to areas of necrosis (IL-8, IL- 1 beta), or in epithelial cells (IL-1 alpha). These data suggest that EBV infection in form of IM results in induction of specific sets of cytokine genes in EBV-infected and in neighboring EBV-negative cells contributing to the characteristic morphology and cellular arrangement of the lesion as well as the clinical presentation.

scholarly journals Position effects of 22q13 rearrangements on candidate genes in Phelan-McDermid syndrome

PLoS ONE ◽  
2021 ◽  
Vol 16 (7) ◽  
pp. e0253859
Author(s):  
Sujata Srikanth ◽  
Lavanya Jain ◽  
Cinthya Zepeda-Mendoza ◽  
Lauren Cascio ◽  
Kelly Jones ◽  
...  
Keyword(s):  
Gene Expression ◽  
Candidate Genes ◽  
Clinical Presentation ◽  
Chromosomal Rearrangements ◽  
Clinical Information ◽  
Molecular Data ◽  
Position Effects ◽  
Ring Chromosomes ◽  
And Function ◽  
System Disorder

Phelan-McDermid syndrome (PMS) is a multi-system disorder characterized by significant variability in clinical presentation. The genetic etiology is also variable with differing sizes of deletions in the chromosome 22q13 region and types of genetic abnormalities (e.g., terminal or interstitial deletions, translocations, ring chromosomes, or SHANK3 variants). Position effects have been shown to affect gene expression and function and play a role in the clinical presentation of various genetic conditions. This study employed a topologically associating domain (TAD) analysis approach to investigate position effects of chromosomal rearrangements on selected candidate genes mapped to 22q13 in 81 individuals with PMS. Data collected were correlated with clinical information from these individuals and with expression and metabolic profiles of lymphoblastoid cells from selected cases. The data confirmed TAD predictions for genes encompassed in the deletions and the clinical and molecular data indicated clear differences among individuals with different 22q13 deletion sizes. The results of the study indicate a positive correlation between deletion size and phenotype severity in PMS and provide evidence of the contribution of other genes to the clinical variability in this developmental disorder by reduced gene expression and altered metabolomics.

Sign in / Sign up

Export Citation Format

Share Document