scholarly journals Metabolic Signaling into Chromatin Modifications in the Regulation of Gene Expression

2018 ◽  
Vol 19 (12) ◽  
pp. 4108 ◽  
Author(s):  
Tian Gao ◽  
Zyanya Díaz-Hirashi ◽  
Francisco Verdeguer
Keyword(s):  
Metabolic Pathways ◽  
Metabolic Disorders ◽  
Regulation Of Gene Expression ◽  
Hormonal Control ◽  
The Other ◽  
Specific Gene ◽  
Chromatin Modifications ◽  
Metabolic Signaling ◽  
Adenosyl Methionine ◽  
Chromatin Acetylation

The regulation of cellular metabolism is coordinated through a tissue cross-talk by hormonal control. This leads to the establishment of specific transcriptional gene programs which adapt to environmental stimuli. On the other hand, recent advances suggest that metabolic pathways could directly signal into chromatin modifications and impact on specific gene programs. The key metabolites acetyl-CoA or S-adenosyl-methionine (SAM) are examples of important metabolic hubs which play in addition a role in chromatin acetylation and methylation. In this review, we will discuss how intermediary metabolism impacts on transcription regulation and the epigenome with a particular focus in metabolic disorders.

scholarly journals OP0277-PARE METABERN, THE EUROPEAN REFERENCE NETWORK FOR RARE HEREDITARY DISEASES: STRUCTURE, OBJECTIVES, METABOLIC RMDS AND THE ROLES OF EUROPEAN PATIENT ADVOCACY GROUPS (EPAGS)

2021 ◽  
Vol 80 (Suppl 1) ◽  
pp. 168.2-168
Author(s):  
L. Wagner ◽  
S. Sestini ◽  
C. Brown ◽  
A. Finglas ◽  
R. Francisco ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Health Care ◽  
Social Science ◽  
Metabolic Pathways ◽  
Metabolic Disorders ◽  
Clinical Care ◽  
Single Point ◽  
Link Type ◽  
The Impact

Background:Inborn metabolic disorders (IMDs) currently encompass more than 1,500 diseases with new ones still to be identified1. Each of them is characterised by a genetic defect affecting a metabolic pathway. Only few of them have curative treatments, that target the respective metabolic pathway. Commonly, treatment examples include diet, substrate reduction therapies, enzyme replacement therapies, gene therapy and biologicals, enabling IMD-patient now to survive to adulthood. About 30 % of all IMDs involve the musculoskeletal system and are here referred to as rare metabolic RMDs. Generally, IMDs are very heterogenous with respect to symptoms and severity, often being systemic and affecting more children than adults. Thus, challenges include certified advanced training of adult metabolic experts, standardised transition plans, social support and development of therapies for diseases that do not have any cure yet.Objectives:Introduction of MetabERN, its structure and objectives, highlighting on the unique features and challenges of metabolic RMDs and describing the involvement of patient representation in MetabERN.Methods:MetabERN is stratified in 7 subnetworks (SNW) according to the respective metabolic pathways and 9 work packages (WP), including administration, dissemination, guidelines, virtual counselling framework, research/clinical trials, continuity of care, education and patient involvement. The patient board involves a steering committee and single point of contacts for each subnetwork and work package, respectively2. Projects include identifying the need of implementing social science to assess the psycho-socio-economic burden of IMDs, webinars on IMDs and their transition as well as surveys on the impact of COVID-193 on IMD-patients and health care providers (HCPs), social assistance for IMD-patients and analysing the transition landscape within Europe.Results:The MetabERN structure enables bundling of expertise, capacity building and knowledge transfer for faster diagnosis and better health care. Rare metabolic RMDs are present in all SNWs that require unique treatments according to their metabolic pathways. Implementation of social science to assess the psycho-socio-economic burden of IMDs is still underused. Involvement of patient representatives is essential for a holistic healthcare not only focusing on clinical care, but also on the quality of life for IMD-patients. Surveys identified unmet needs of patient care, patients having little information on national support systems and structural deficits of healthcare systems to ensure HCP can provide adequate clinical care during transition phases. These results are collected by MetabERN and forwarded to the Directorate-General for Health and Food Safety (DG SANTE) of the European Commission (EC) to be addressed further.Conclusion:MetabERN offers an infrastructure of virtual healthcare for patients with IMDs. Thus, in collaboration with ERN ReCONNET, MetabERN can assist in identifying rare metabolic disorders of RMDs to shorten the odyssey of diagnosis and advise on their respective therapies. On the other hand, MetabERN can benefit from EULAR’s longstanding experience regarding issues affecting the quality of life, all RMD patients are facing, such as pain, stiffness, fatigue, rehabilitation, maintaining work and disability claims.References:[1]IEMbase - Inborn Errors of Metabolism Knowledgebase http://www.iembase.org/ (accessed Jan 29, 2021).[2]MetabERN: European Refence Network for Hereditary Metabolic Disorders https://metab.ern-net.eu/ (accessed Jan 29, 2021).[3]Lampe, C.; Dionisi-Vici, C.; Bellettato, C. M.; Paneghetti, L.; van Lingen, C.; Bond, S.; Brown, C.; Finglas, A.; Francisco, R.; Sestini, S.; Heard, J. M.; Scarpa, M.; MetabERN collaboration group. The Impact of COVID-19 on Rare Metabolic Patients and Healthcare Providers: Results from Two MetabERN Surveys. Orphanet J. Rare Dis.2020, 15 (1), 341. https://doi.org/10.1186/s13023-020-01619-x.Acknowledgements:The authors thank the MetabERN collaboration group, the single point of contacts (SPOC) of the MetabERN patient board and the Transition Project Working Group (TPWG)Disclosure of Interests:None declared

scholarly journals ARID2 Chromatin Remodeler in Hepatocellular Carcinoma

Cells ◽  
2020 ◽  
Vol 9 (10) ◽  
pp. 2152
Author(s):  
Robin Loesch ◽  
Linda Chenane ◽  
Sabine Colnot
Keyword(s):  
Gene Expression ◽  
Hepatocellular Carcinoma ◽  
Associated Factors ◽  
Regulation Of Gene Expression ◽  
Specific Gene ◽  
Chromatin Remodeler ◽  
Chromatin Remodelers ◽  
Genes Encoding ◽  
Gene Alterations

Chromatin remodelers are found highly mutated in cancer including hepatocellular carcinoma. These mutations frequently occur in ARID (AT-rich Interactive Domain) genes, encoding subunits of the ATP-dependent SWI/SNF remodelers. The increasingly prevalent complexity that surrounds the functions and specificities of the highly modular BAF (BG1/BRM-associated factors) and PBAF (polybromo-associated BAF) complexes, including ARID1A/B or ARID2, is baffling. The involvement of the SWI/SNF complexes in diverse tissues and processes, and especially in the regulation of gene expression, multiplies the specific outcomes of specific gene alterations. A better understanding of the molecular consequences of specific mutations impairing chromatin remodelers is needed. In this review, we summarize what we know about the tumor-modulating properties of ARID2 in hepatocellular carcinoma.

scholarly journals Differential Regulation of Gene Expression of Alveolar Epithelial Cell Markers in Human Lung Adenocarcinoma-Derived A549 Clones

2015 ◽  
Vol 2015 ◽  
pp. 1-20 ◽  
Author(s):  
Hiroshi Kondo ◽  
Keiko Miyoshi ◽  
Shoji Sakiyama ◽  
Akira Tangoku ◽  
Takafumi Noma
Keyword(s):  
Gene Expression ◽  
Epithelial Cell ◽  
Mapk Pathway ◽  
Alveolar Epithelial Cell ◽  
Marker Gene ◽  
Regulation Of Gene Expression ◽  
Surfactant Protein ◽  
Specific Gene ◽  
Expression Levels ◽  
Alveolar Epithelial

Stem cell therapy appears to be promising for restoring damaged or irreparable lung tissue. However, establishing a simple and reproducible protocol for preparing lung progenitor populations is difficult because the molecular basis for alveolar epithelial cell differentiation is not fully understood. We investigated anin vitrosystem to analyze the regulatory mechanisms of alveolus-specific gene expression using a human alveolar epithelial type II (ATII) cell line, A549. After cloning A549 subpopulations, each clone was classified into five groups according to cell morphology and marker gene expression. Two clones (B7 and H12) were further analyzed. Under serum-free culture conditions,surfactant protein C(SPC), an ATII marker, was upregulated in both H12 and B7.Aquaporin 5(AQP5), an ATI marker, was upregulated in H12 and significantly induced in B7. When the RAS/MAPK pathway was inhibited,SPCandthyroid transcription factor-1(TTF-1) expression levels were enhanced. After treatment with dexamethasone (DEX), 8-bromoadenosine 3′5′-cyclic monophosphate (8-Br-cAMP), 3-isobutyl-1-methylxanthine (IBMX), and keratinocyte growth factor (KGF),surfactant protein BandTTF-1expression levels were enhanced. We found that A549-derived clones have plasticity in gene expression of alveolar epithelial differentiation markers and could be useful in studying ATII maintenance and differentiation.

scholarly journals Degradome comparison between wild and cultivated rice identifies differential targeting by miRNAs

BMC Genomics ◽  
2022 ◽  
Vol 23 (1) ◽  
Author(s):  
Chenna Swetha ◽  
Anushree Narjala ◽  
Awadhesh Pandit ◽  
Varsha Tirumalai ◽  
P. V. Shivaprasad
Keyword(s):  
Metabolic Pathways ◽  
Wild Rice ◽  
Regulation Of Gene Expression ◽  
Genome Integrity ◽  
Cultivated Rice ◽  
Mrna Targets ◽  
Ribonucleoprotein Complexes ◽  
The Poor ◽  
Rna Targets ◽  
Secondary Wall Formation

Abstract Background Small non-coding (s)RNAs are involved in the negative regulation of gene expression, playing critical roles in genome integrity, development and metabolic pathways. Targeting of RNAs by ribonucleoprotein complexes of sRNAs bound to Argonaute (AGO) proteins results in cleaved RNAs having precise and predictable 5` ends. While tools to study sliced bits of RNAs to confirm the efficiency of sRNA-mediated regulation are available, they are sub-optimal. In this study, we provide an improvised version of a tool with better efficiency to accurately validate sRNA targets. Results Here, we improvised the CleaveLand tool to identify additional micro (mi)RNA targets that belong to the same family and also other targets within a specified free energy cut-off. These additional targets were otherwise excluded during the default run. We employed these tools to understand the sRNA targeting efficiency in wild and cultivated rice, sequenced degradome from two rice lines, O. nivara and O. sativa indica Pusa Basmati-1 and analyzed variations in sRNA targeting. Our results indicate the existence of multiple miRNA-mediated targeting differences between domesticated and wild species. For example, Os5NG4 was targeted only in wild rice that might be responsible for the poor secondary wall formation when compared to cultivated rice. We also identified differential mRNA targets of secondary sRNAs that were generated after miRNA-mediated cleavage of primary targets. Conclusions We identified many differentially targeted mRNAs between wild and domesticated rice lines. In addition to providing a step-wise guide to generate and analyze degradome datasets, we showed how domestication altered sRNA-mediated cascade silencing during the evolution of indica rice.

scholarly journals Hyperostosis frontalis interna in Arctic groups according to craniology

2021 ◽  
pp. 102-120
Author(s):  
Alexandra P. Buzhilova ◽  
◽  
Anna S. Kolyasnikova ◽  
Keyword(s):  
Metabolic Disorders ◽  
Elderly Women ◽  
Age Distribution ◽  
The Other ◽  
The Arctic ◽  
Extreme Conditions ◽  
Hormonal Changes ◽  
Male And Female ◽  
Males And Females ◽  
Age Category

We have examined 942 skulls from the collections of the Anuchin Research Institute and Museum of Anthropology (13 craniological collections of the Arctic groups). We have analyzed the total frequency of HFI, used a comparative intergroup analysis, and evaluated the degree of HFI expression and the distribution of the trait according to sex and age. Univariate nonparametric statistics was applied. Results. It was found that the rate of HFI in the Arctic groups is much lower than in other groups of modern Eurasian and American populations. In the combined series, HFI was equally represented in both males and females. However, according to the age distribution, the male and female groups are different. HFI was more frequent in males in the Adultus and Maturus groups and in the Senilis group in females. Discussion. The significantly lower frequency of HFI in the Arctic series relative to the other modern groups show us a low level of metabolic disorders in the Arctic population and a good adaptation to the type of nutrition and living in extreme conditions. The obtained data show the predominance of the trait in the groups of mature and elderly women, and the appearance of HFI of different severity in men regardless of the age category. Probably, in the Arctic samples in women, HFI identifies metabolic disorders due to normal hormonal changes in women aging. HFI should be considered as an indicator of the presence of metabolic disorders in young and mature age in Arctic men group.

scholarly journals Abnormal Iron and Lipid Metabolism Mediated Ferroptosis in Kidney Diseases and Its Therapeutic Potential

Metabolites ◽  
2022 ◽  
Vol 12 (1) ◽  
pp. 58
Author(s):  
Xiaoqin Zhang ◽  
Xiaogang Li
Keyword(s):  
Kidney Disease ◽  
Signaling Pathways ◽  
Metabolic Pathways ◽  
Molecular Mechanisms ◽  
Unsaturated Fatty Acids ◽  
Therapeutic Potential ◽  
Kidney Diseases ◽  
Intracellular Iron ◽  
Metabolic Signaling ◽  
Iron Regulatory Proteins

Ferroptosis is a newly identified form of regulated cell death driven by iron-dependent phospholipid peroxidation and oxidative stress. Ferroptosis has distinct biological and morphology characteristics, such as shrunken mitochondria when compared to other known regulated cell deaths. The regulation of ferroptosis includes different molecular mechanisms and multiple cellular metabolic pathways, including glutathione/glutathione peroxidase 4(GPX4) signaling pathways, which are involved in the amino acid metabolism and the activation of GPX4; iron metabolic signaling pathways, which are involved in the regulation of iron import/export and the storage/release of intracellular iron through iron-regulatory proteins (IRPs), and lipid metabolic signaling pathways, which are involved in the metabolism of unsaturated fatty acids in cell membranes. Ferroptosis plays an essential role in the pathology of various kidneys diseases, including acute kidney injury (AKI), chronic kidney disease (CKD), autosomal dominant polycystic kidney disease (ADPKD), and renal cell carcinoma (RCC). Targeting ferroptosis with its inducers/initiators and inhibitors can modulate the progression of kidney diseases in animal models. In this review, we discuss the characteristics of ferroptosis and the ferroptosis-based mechanisms, highlighting the potential role of the main ferroptosis-associated metabolic pathways in the treatment and prevention of various kidney diseases.

scholarly journals Metabolic signs of abdominal obesity in the patients presenting with acute myocardial infarction and normal or excess body weight

2012 ◽  
Vol 58 (4) ◽  
pp. 27-31
Author(s):  
L V Kvitkova ◽  
D A Borodkina ◽  
O V Gruzdeva ◽  
A A Silonova ◽  
O N Zharkova ◽  
...  
Keyword(s):  
Myocardial Infarction ◽  
Insulin Resistance ◽  
Metabolic Disorders ◽  
Clinical Manifestations ◽  
Insulin Level ◽  
The Other ◽  
Excess Body Weight ◽  
The One ◽  
The Relationship ◽  
Level 2

This work was designed to study the relationship between the disturbances of carbohydrate metabolism (DCHM) and insulin resistance (IR) on the one hand and body mass index (BMI) and waist circumference (WC) on the other hand in the patients presenting with acute and cicatrical myocardial infarction (MI). It was shown that WC in all the patients exceeded the upper gender norm. The clinical manifestations of metabolic syndrome were documented in 65.6% of the patients with normal BMI, 85,7% of those with excess BMI, and in 96.3% of the patients with obesity. In all the groups the WC measures positively correlated with the glucose blood level at admittance to the hospital and on days 1 (r=0.34; p=0.01), 2 (r=0.38; p =0.0002), and 3 (r=0.68; p=0.002) after it. Similar correlation was observed with the insulin level 2 hours post-prandially on days 1 (r=0.42; p=0.01), 2 (r=0.5; p=0.0002), and 3 (r=-0.95; p=0.0003). The relationship between metabolic disorders and WC values indicates that visceral fat plays an important role in the regulation of metabolic processes and suggests the necessity of the treatment for the correction of WC.

scholarly journals Obesity and cahexia as the first manifestations of craniopharingioma

2018 ◽  
Vol 15 (1) ◽  
pp. 43-49 ◽  
Author(s):  
Liudmila I. Astafieva ◽  
Irina S. Klochkova ◽  
Pavel L. Kalinin ◽  
Boris A. Kadashev ◽  
Aleksandr N. Konovalov ◽  
...  
Keyword(s):  
Energy Balance ◽  
Young Women ◽  
Energy Exchange ◽  
Metabolic Disorders ◽  
Energy Homeostasis ◽  
The Other ◽  
Hypothalamic Region ◽  
Clinical Observations

The key structure in the regulation of energy homeostasis is the hypothalamus. The damage of the hypothalamic region can lead to imbalance of energy exchange with the development of obesity or cachexia. The most common metabolic disorders occur in case of craniopharyngiomas. The article presents two clinical observations of papillary craniopharyngioma in young women. Cases were accompanied by different disturbances of the energy balance, in one - with the development of obesity, in the other - cachexia.

scholarly journals Inositol phosphate release and steroidogenesis in rat adrenal glomerulosa cells. Comparison of the effects of endothelin, angiotensin II and vasopressin

1990 ◽  
Vol 271 (3) ◽  
pp. 791-796 ◽  
Author(s):  
E A Woodcock ◽  
P J Little ◽  
J K Tanner
Keyword(s):  
Angiotensin Ii ◽  
Metabolic Pathways ◽  
Inositol Phosphate ◽  
The Other ◽  
Relative Importance ◽  
Phosphate Release ◽  
Phosphatidylinositol Turnover ◽  
Transient Rise ◽  
Glomerulosa Cells ◽  
Stimulation Of

Endothelin has steroidogenic activity in adrenal glomerulosa cells, as do two other vasoconstrictor peptides, angiotensin II and vasopressin. The steroidogenic activities of angiotensin II and vasopressin are probably mediated via the phosphatidylinositol-turnover pathway and associated changes in cytosolic Ca2+ concentration. Endothelin caused a steroidogenic response, which was small compared with that to angiotensin II and quantitatively similar to the vasopressin response. Cytosolic free Ca2+ responses were similarly higher to angiotensin II than to either of the other two peptides. However, total inositol phosphate responses to endothelin and angiotensin II were similar when these were measured over 20 min, and were quantitatively greater than the vasopressin response. A detailed study has been made of the phosphatidylinositol-turnover response to endothelin in comparison with responses to angiotensin II and vasopressin. Each of the three peptides produced a rapid and transient rise in Ins(1,4,5)P3 (max. 5-15 s), followed by a slow sustained rise. Ins(1,4,5)P3 was metabolized by both dephosphorylation and phosphorylation pathways, but the relative importance of the two metabolic pathways was different under stimulation by each of the three peptides. These findings show that adrenal glomerulosa cells can distinguish between the stimulation of phosphatidylinositol turnover by three different effectors. These differences in the pathway may be associated with the observed different steroidogenic and Ca2+ responses to the three peptides.

scholarly journals Adipose tissue in control of metabolism

2016 ◽  
Vol 231 (3) ◽  
pp. R77-R99 ◽  
Author(s):  
Liping Luo ◽  
Meilian Liu
Keyword(s):  
Adipose Tissue ◽  
Metabolic Pathways ◽  
The Body ◽  
The Other ◽  
Whole Body ◽  
Endocrine Organ ◽  
Lipid Mobilization ◽  
Adipose Tissue Dysfunction ◽  
Body Energy ◽  
Beige Adipose Tissue

Adipose tissue plays a central role in regulating whole-body energy and glucose homeostasis through its subtle functions at both organ and systemic levels. On one hand, adipose tissue stores energy in the form of lipid and controls the lipid mobilization and distribution in the body. On the other hand, adipose tissue acts as an endocrine organ and produces numerous bioactive factors such as adipokines that communicate with other organs and modulate a range of metabolic pathways. Moreover, brown and beige adipose tissue burn lipid by dissipating energy in the form of heat to maintain euthermia, and have been considered as a new way to counteract obesity. Therefore, adipose tissue dysfunction plays a prominent role in the development of obesity and its related disorders such as insulin resistance, cardiovascular disease, diabetes, depression and cancer. In this review, we will summarize the recent findings of adipose tissue in the control of metabolism, focusing on its endocrine and thermogenic function.

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