Special Issue "Genetic and Epigenetic Investigations into the Pathogenesis and Pathophysiology of the Metabolic Syndrome"

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Human Genomics and Genetic Diseases".

Deadline for manuscript submissions: 31 December 2021.

Special Issue Editor

Dr. David Q-H Wang
E-Mail Website
Guest Editor
Albert Einstein College of Medicine, Bronx, NY 10461, USA
Interests: cholesterol and bile acid metabolism in the liver; bile; intestine; plasma; cholelithiasis; intestinal lipid absorption; nonalcoholic fatty liver disease; alcoholic liver disease; cholestasis
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Special Issue Information

Dear Colleagues,

Metabolic syndrome is defined as a clustering of metabolic abnormalities that include central obesity, insulin resistance, hypertriglyceridemia, hypertriglyceridemia, hypertension, and reduced high-density lipoprotein cholesterol concentrations. It is also associated with other comorbidities including the proinflammatory state, prothrombotic state, nonalcoholic fatty liver disease, cholesterol gallstone disease, and reproductive disorders. The metabolic syndrome is one of the risk factors for the epidemic of type 2 diabetes and cardiovascular disease in the 21st century because it appears as a worldwide epidemic and major public health concern with a high prevalence rate not only in the USA and Europe, but also in most Asian and South American countries. It has been found that the metabolic syndrome is associated with a significant increase in cardiovascular disease and type 2 diabetes. Although it is unclear whether there is a unifying pathogenic mechanism that could elucidate the pathophysiology of the metabolic syndrome, abdominal obesity and insulin resistance definitively play a pivotal role in triggering the development of the metabolic syndrome. Because the metabolic syndrome could be caused largely by an inactive lifestyle, overconsumption of food, and the resulting abdominal obesity, it is strongly recommended that lifestyle changes and weight loss are the first step to prevent or treat metabolic syndrome. In addition, other cardiac risk factors should be actively managed in individuals with metabolic syndrome.

In this Special Issue, topics will be focused on genetic and epigenetic investigations into the pathogenesis and pathophysiology of the metabolic syndrome, as well as epidemiology and natural course of this metabolic disorder. In addition, special emphasis will be given to the abnormal genetic, cellular, and molecular mechanisms underlying the dysfunctional lipid and glucose metabolism as risk factors for the development of metabolic syndrome.

This Special Issue is also dedicated to the cellular and molecular mechanisms of the pathophysiology of risk components for the development of the metabolic syndrome, such as obesity, diabetes, insulin resistance, hypertriglyceridemia, hypertriglyceridemia, hypertension, cardiovascular disease, gallstones, nonalcoholic fatty liver disease, and abnormal lipoprotein metabolism. Taken together, basic, translational, and clinical studies on these topics are strongly recommended for publication in this Special Issue.

We cordially invite all researchers, scientists, investigators, and clinicians who work in these fields to submit their manuscripts (i.e., original research papers, review articles and commentaries) for publication in this Special Issue of Genes.

Dr. David Q-H Wang
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All papers will be peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Genes is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2000 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.


  • metabolic disorder
  • obesity
  • diabetes
  • hypertension
  • nonalcoholic fatty liver disease
  • genetic disorders
  • gene mutation and variants
  • single cell genetics
  • next-generation sequencing and genome analysis
  • epigenetics

Published Papers (1 paper)

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Heterozygous Nme7 Mutation Affects Glucose Tolerance in Male Rats
Genes 2021, 12(7), 1087; https://0-doi-org.brum.beds.ac.uk/10.3390/genes12071087 - 18 Jul 2021
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Complex metabolic conditions such as type 2 diabetes and obesity result from the interaction of numerous genetic and environmental factors. While the family of Nme proteins has been connected so far mostly to development, proliferation, or ciliary functions, several lines of evidence from [...] Read more.
Complex metabolic conditions such as type 2 diabetes and obesity result from the interaction of numerous genetic and environmental factors. While the family of Nme proteins has been connected so far mostly to development, proliferation, or ciliary functions, several lines of evidence from human and experimental studies point to the potential involvement of one of its members, NME7 (non-metastatic cells 7, nucleoside diphosphate kinase 7) in carbohydrate and lipid metabolism. As a complete lack of Nme7 is semilethal in rats, we compared morphometric, metabolic, and transcriptomic profiles of standard diet-fed heterozygous Nme7+/− on male rats vs. their wild-type Nme7+/+ controls. Nme7+/− animals showed increased body weight, adiposity, higher insulin levels together with decreased glucose tolerance. Moreover, they displayed pancreatic islet fibrosis and kidney tubular damage. Despite no signs of overt liver steatosis or dyslipidemia, we found significant changes in the hepatic transcriptome of Nme7+/− male rats with a concerted increase of expression of lipogenic enzymes including Scd1, Fads1, Dhcr7 and a decrease of Cyp7b1 and Nme7. Network analyses suggested possible links between Nme7 and the activation of Srebf1 and Srebf2 upstream regulators. These results further support the implication of NME7 in the pathogenesis of glucose intolerance and adiposity. Full article
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