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Biomedicines
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Molecular Research of Genes Involved in Metabolic Diseases
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Molecular Research of Genes Involved in Metabolic Diseases

A special issue of Biomedicines (ISSN 2227-9059). This special issue belongs to the section "Endocrinology and Metabolism Research".

Deadline for manuscript submissions: closed (28 February 2023) | Viewed by 14395

Special Issue Editors

Dr. Felipe Javier Chaves-Martinez

E-Mail Website
Guest Editor
Genomics and Diabetes Unit, Health Research Institute Clinic Hospital of Valencia-INCLIVA, Menendez Pelayo 4acc, 46010 Valencia, Spain
Interests: Genetics of Human disease
Dr. Ana-Bárbara García-García

E-Mail Website
Guest Editor
CIBER of Diabetes and Associated Metabolic Diseases (CIBERDEM), 28029 Madrid, Spain
Interests: genetics of type 2 diabetes

Special Issue Information

Dear Colleagues,

Metabolic diseases include a large number of disorders that are related to the alteration of different aspects of metabolism. These diseases include all those associated with cardiometabolic diseases and others related to other metabolites that can cause a disease. This Special Issue aims to include original reports, reviews, and short reports on understanding the potential molecular mechanisms underlying different kind of metabolic diseases related, among others, to diabetes, lipid alterations or obesity. In this issue, we are interested in including studies on the genetic causes, mechanisms involved, and their use as biomarkers in complex or monogenic diseases.

Dr. Felipe Javier Chaves-Martinez
Dr. Ana-Bárbara García-García
Guest Editors

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 submissions that pass pre-check are 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. Biomedicines 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 2600 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.

Keywords

  • metabolic disease
  • complex and monogenic diseases
  • genetic causes
  • environmental and genetic interaction
  • genetic mechanisms

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Published Papers (5 papers)

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Editorial

Jump to: Research

3 pages, 204 KiB  
Editorial
Molecular Research on Genes Involved in Metabolic Diseases
by Francisco Lara-Hernandez, Luis Alvarez, Javier Chaves and Ana-Barbara Garcia-Garcia
Biomedicines 2023, 11(6), 1671; https://doi.org/10.3390/biomedicines11061671 - 9 Jun 2023
Viewed by 1167
Abstract
Numerous genes involved in different metabolic diseases have been identified, and this number is increasing [...] Full article
(This article belongs to the Special Issue Molecular Research of Genes Involved in Metabolic Diseases)

Research

Jump to: Editorial

10 pages, 874 KiB  
Article
A Very Rare Variant in SREBF2, a Possible Cause of Hypercholesterolemia and Increased Glycemic Levels
by Ana-Bárbara García-García, Sergio Martínez-Hervás, Santiago Vernia, Carmen Ivorra, Inés Pulido, Juan-Carlos Martín-Escudero, Marta Casado, Julián Carretero, José T. Real and Felipe Javier Chaves
Biomedicines 2022, 10(5), 1178; https://doi.org/10.3390/biomedicines10051178 - 19 May 2022
Cited by 5 | Viewed by 2596
Abstract
Patients with high cholesterol and glucose levels are at high risk for cardiovascular disease. The Sterol Regulatory Element Binding Protein (SREBP) system regulates genes involved in lipid, cholesterol and glucose pathways. Autosomal Dominant Hypercholesterolemias (ADHs) are a group of diseases with increased cholesterol [...] Read more.
Patients with high cholesterol and glucose levels are at high risk for cardiovascular disease. The Sterol Regulatory Element Binding Protein (SREBP) system regulates genes involved in lipid, cholesterol and glucose pathways. Autosomal Dominant Hypercholesterolemias (ADHs) are a group of diseases with increased cholesterol levels. They affect 1 out of every 500 individuals. About 20–30% of patients do not present any mutation in the known genes (LDLR, APOB and PCSK9). ADHs constitute a good model to identify the genes involved in the alteration of lipid levels or possible therapeutic targets. In this paper, we studied whether a mutation in the SREBP system could be responsible for ADH and other metabolic alterations present in these patients. Forty-one ADH patients without mutations in the main responsible genes were screened by direct sequencing of SREBP system genes. A luciferase reporter assay of the found mutation and an oral glucose tolerance test in carriers and non-carriers were performed. We found a novel mutation in the SREBF2 gene that increases transcription levels and cosegregates with hypercholesterolemia, and we found increased glucose levels in one family. SREBP2 is known to be involved in cholesterol synthesis, plasma levels and glucose metabolism in humans. The found mutation may involve the SREBF2 gene in hypercholesterolemia combined with hyperglycemia. Full article
(This article belongs to the Special Issue Molecular Research of Genes Involved in Metabolic Diseases)
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13 pages, 1633 KiB  
Article
The Calcium Channel Subunit Gamma-4 as a Novel Regulator of MafA in Pancreatic Beta-Cell Controls Glucose Homeostasis
by Rui Wu, Alexandros Karagiannopoulos, Lena Eliasson, Erik Renström, Cheng Luan and Enming Zhang
Biomedicines 2022, 10(4), 770; https://doi.org/10.3390/biomedicines10040770 - 25 Mar 2022
Cited by 5 | Viewed by 2253
Abstract
Impaired fasting glucose (IFG) and impaired glucose tolerance (IGT) are high-risk factors of diabetes development and may be caused by defective insulin secretion in pancreatic beta-cells. Glucose-stimulated insulin secretion is mediated by voltage-gated Ca2+ (CaV) channels in which the gamma-4 [...] Read more.
Impaired fasting glucose (IFG) and impaired glucose tolerance (IGT) are high-risk factors of diabetes development and may be caused by defective insulin secretion in pancreatic beta-cells. Glucose-stimulated insulin secretion is mediated by voltage-gated Ca2+ (CaV) channels in which the gamma-4 subunit (CaVγ4) is required for the beta-cell to maintain its differentiated state. We here aim to explore the involvement of CaVγ4 in controlling glucose homeostasis by employing the CaVγ4−/− mice to study in vivo glucose-metabolism-related phenotypes and glucose-stimulated insulin secretion, and to investigate the underlying mechanisms. We show that CaVγ4−/− mice exhibit perturbed glucose homeostasis, including IFG and IGT. Glucose-stimulated insulin secretion is blunted in CaVγ4−/− mouse islets. Remarkably, CaVγ4 deletion results in reduced expression of the transcription factor essential for beta-cell maturation, MafA, on both mRNA and protein levels in islets from human donors and CaVγ4−/− mice, as well as in INS-1 832/13 cells. Moreover, we prove that CaMKII is responsible for mediating this regulatory pathway linked between CaVγ4 and MafA, which is further confirmed by human islet RNA-seq data. We demonstrate that CaVγ4 is a key player in preserving normal blood glucose homeostasis, which sheds light on CaVγ4 as a novel target for the treatment of prediabetes through correcting the impaired metabolic status. Full article
(This article belongs to the Special Issue Molecular Research of Genes Involved in Metabolic Diseases)
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27 pages, 2724 KiB  
Article
Sweet Taste Preference: Relationships with Other Tastes, Liking for Sugary Foods and Exploratory Genome-Wide Association Analysis in Subjects with Metabolic Syndrome
by Rebeca Fernández-Carrión, Jose V. Sorlí, Oscar Coltell, Eva C. Pascual, Carolina Ortega-Azorín, Rocío Barragán, Ignacio M. Giménez-Alba, Andrea Alvarez-Sala, Montserrat Fitó, Jose M. Ordovas and Dolores Corella
Biomedicines 2022, 10(1), 79; https://doi.org/10.3390/biomedicines10010079 - 31 Dec 2021
Cited by 15 | Viewed by 4410
Abstract
Taste perception and its association with nutrition and related diseases (type 2 diabetes, obesity, metabolic syndrome, cardiovascular, etc.) are emerging fields of biomedicine. There is currently great interest in investigating the environmental and genetic factors that influence sweet taste and sugary food preferences [...] Read more.
Taste perception and its association with nutrition and related diseases (type 2 diabetes, obesity, metabolic syndrome, cardiovascular, etc.) are emerging fields of biomedicine. There is currently great interest in investigating the environmental and genetic factors that influence sweet taste and sugary food preferences for personalized nutrition. Our aims were: (1) to carry out an integrated analysis of the influence of sweet taste preference (both in isolation and in the context of other tastes) on the preference for sugary foods and its modulation by type 2 diabetes status; (2) as well as to explore new genetic factors associated with sweet taste preference. We studied 425 elderly white European subjects with metabolic syndrome and analyzed taste preference, taste perception, sugary-foods liking, biochemical and genetic markers. We found that type 2 diabetic subjects (38%) have a small, but statistically higher preference for sweet taste (p = 0.021) than non-diabetic subjects. No statistically significant differences (p > 0.05) in preferences for the other tastes (bitter, salty, sour or umami) were detected. For taste perception, type 2 diabetic subjects have a slightly lower perception of all tastes (p = 0.026 for the combined “total taste score”), bitter taste being statistically lower (p = 0.023). We also carried out a principal component analysis (PCA), to identify latent variables related to preferences for the five tastes. We identified two factors with eigenvalues >1. Factor 2 was the one with the highest correlation with sweet taste preference. Sweet taste preference was strongly associated with a liking for sugary foods. In the exploratory SNP-based genome-wide association study (GWAS), we identified some SNPs associated with sweet taste preference, both at the suggestive and at the genome-wide level, especially a lead SNP in the PTPRN2 (Protein Tyrosine Phosphatase Receptor Type N2) gene, whose minor allele was associated with a lower sweet taste preference. The PTPRN2 gene was also a top-ranked gene obtained in the gene-based exploratory GWAS analysis. In conclusion, sweet taste preference was strongly associated with sugary food liking in this population. Our exploratory GWAS identified an interesting candidate gene related with sweet taste preference, but more studies in other populations are required for personalized nutrition. Full article
(This article belongs to the Special Issue Molecular Research of Genes Involved in Metabolic Diseases)
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16 pages, 1504 KiB  
Article
Epigenome-Wide Histone Acetylation Changes in Peripheral Blood Mononuclear Cells in Patients with Type 2 Diabetes and Atherosclerotic Disease
by Pradeep Bompada, Isabel Goncalves, Chuanyan Wu, Rui Gao, Jiangming Sun, Bilal Ahmad Mir, Cheng Luan, Erik Renström, Leif Groop, Jianping Weng, Ola Hansson, Andreas Edsfeldt and Yang De Marinis
Biomedicines 2021, 9(12), 1908; https://doi.org/10.3390/biomedicines9121908 - 14 Dec 2021
Cited by 5 | Viewed by 2973
Abstract
There is emerging evidence of an association between epigenetic modifications, glycemic control and atherosclerosis risk. In this study, we mapped genome-wide epigenetic changes in patients with type 2 diabetes (T2D) and advanced atherosclerotic disease. We performed chromatin immunoprecipitation sequencing (ChIP-seq) using a histone [...] Read more.
There is emerging evidence of an association between epigenetic modifications, glycemic control and atherosclerosis risk. In this study, we mapped genome-wide epigenetic changes in patients with type 2 diabetes (T2D) and advanced atherosclerotic disease. We performed chromatin immunoprecipitation sequencing (ChIP-seq) using a histone 3 lysine 9 acetylation (H3K9ac) mark in peripheral blood mononuclear cells from patients with atherosclerosis with T2D (n = 8) or without T2D (ND, n = 10). We mapped epigenome changes and identified 23,394 and 13,133 peaks in ND and T2D individuals, respectively. Out of all the peaks, 753 domains near the transcription start site (TSS) were unique to T2D. We found that T2D in atherosclerosis leads to an H3K9ac increase in 118, and loss in 63 genomic regions. Furthermore, we discovered an association between the genomic locations of significant H3K9ac changes with genetic variants identified in previous T2D GWAS. The transcription factor 7-like 2 (TCF7L2) rs7903146, together with several human leukocyte antigen (HLA) variants, were among the domains with the most dramatic changes of H3K9ac enrichments. Pathway analysis revealed multiple activated pathways involved in immunity, including type 1 diabetes. Our results present novel evidence on the interaction between genetics and epigenetics, as well as epigenetic changes related to immunity in patients with T2D and advanced atherosclerotic disease. Full article
(This article belongs to the Special Issue Molecular Research of Genes Involved in Metabolic Diseases)
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