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New Advance in Diabetes Genetics

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Endocrinology and Metabolism".

Deadline for manuscript submissions: closed (31 May 2022) | Viewed by 16005

Special Issue Editor

Dr. Maurizio Delvecchio

E-Mail Website
Guest Editor
Department of Metabolic and Genetic Diseases, Giovanni XXIII Children’s Hospital, 70126 Bari, Italy
Interests: neonatal diabetes mellitus; type 1 diabetes; celiac disease; thyroid disorders; insulin; Wolfram syndrome; Prader Villino syndrome
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Diabetes mellitus is a heterogeneous group of disorders characterized by persistent hyperglycemia. Genetics plays a role to some extent in type 1 and type 2 diabetes, but in other rare forms, such as MODY and mitochondrial diabetes, are directly inherited and thus genetics plays a pivotal role.

Genetics does not play a role in the management or prevention of type 1 and type 2 diabetes, but it may allow to design intervention trials. Genetic tests could unravel the individual susceptibilities and drive the choice to reduce the risks by applying medical surveillance or lifestyle modficiations or even drug therapy.

In the rare forms, early diagnosis by genetic testing may help to reduce the likelihood of long-term complications. Furthermore, psychological and family adjustments to diabetes may also be improved when the specific form of the disease is known.

This Special Issue focuses on high-quality research papers that address genetic issues in every type of diabetes mellitus. Contributions from a wide range of professions are welcome. Original research papers and state-of-the-art reviews will be accepted.

Dr. Maurizio Delvecchio
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 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. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. There is an Article Processing Charge (APC) for publication in this open access journal. For details about the APC please see here. 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

  • diabetes mellitus
  • MODY
  • mitochondrial diabetes
  • neonatal diabetes
  • syndromic diabetes
  • pharmacogenomics
  • genetics
  • prevention
  • genetic etiology
  • personalized medicine

Published Papers (7 papers)

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Editorial

Jump to: Research, Review, Other

2 pages, 181 KiB  
Editorial
New Advances in Diabetes Genetics
by Maurizio Delvecchio
Int. J. Mol. Sci. 2023, 24(6), 5591; https://0-doi-org.brum.beds.ac.uk/10.3390/ijms24065591 - 15 Mar 2023
Viewed by 781
Abstract
Diabetes mellitus constitutes a heterogeneous group of disorders characterized by chronic hyperglycaemia [...] Full article
(This article belongs to the Special Issue New Advance in Diabetes Genetics)

Research

Jump to: Editorial, Review, Other

20 pages, 3012 KiB  
Article
Transcriptomic Profiling of Rectus Abdominis Muscle in Women with Gestational Diabetes-Induced Myopathy: Characterization of Pathophysiology and Potential Muscle Biomarkers of Pregnancy-Specific Urinary Incontinence
by Fernanda Cristina Bergamo Alves, Rafael Guilen de Oliveira, David Rafael Abreu Reyes, Gabriela Azevedo Garcia, Juliana Ferreira Floriano, Raghavendra Hallur Lakshmana Shetty, Edson Assunção Mareco, Maeli Dal-Pai-Silva, Spencer Luiz Marques Payão, Fátima Pereira de Souza, Steven S. Witkin, Luis Sobrevia, Angélica Mércia Pascon Barbosa, Marilza Vieira Cunha Rudge and Diamater Study Group
Int. J. Mol. Sci. 2022, 23(21), 12864; https://0-doi-org.brum.beds.ac.uk/10.3390/ijms232112864 - 25 Oct 2022
Cited by 3 | Viewed by 1686
Abstract
Gestational diabetes mellitus (GDM) is recognized as a “window of opportunity” for the future prediction of such complications as type 2 diabetes mellitus and pelvic floor muscle disorders, including urinary incontinence and genitourinary dysfunction. Translational studies have reported that pelvic floor muscle disorders [...] Read more.
Gestational diabetes mellitus (GDM) is recognized as a “window of opportunity” for the future prediction of such complications as type 2 diabetes mellitus and pelvic floor muscle disorders, including urinary incontinence and genitourinary dysfunction. Translational studies have reported that pelvic floor muscle disorders are due to a GDM-induced-myopathy (GDiM) of the pelvic floor muscle and rectus abdominis muscle (RAM). We now describe the transcriptome profiling of the RAM obtained by Cesarean section from GDM and non-GDM women with and without pregnancy-specific urinary incontinence (PSUI). We identified 650 genes in total, and the differentially expressed genes were defined by comparing three control groups to the GDM with PSUI group (GDiM). Enrichment analysis showed that GDM with PSUI was associated with decreased gene expression related to muscle structure and muscle protein synthesis, the reduced ability of muscle fibers to ameliorate muscle damage, and the altered the maintenance and generation of energy through glycogenesis. Potential genetic muscle biomarkers were validated by RT-PCR, and their relationship to the pathophysiology of the disease was verified. These findings help elucidate the molecular mechanisms of GDiM and will promote the development of innovative interventions to prevent and treat complications such as post-GDM urinary incontinence. Full article
(This article belongs to the Special Issue New Advance in Diabetes Genetics)
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13 pages, 1843 KiB  
Article
Influence of Insulin Receptor Single Nucleotide Polymorphisms on Glycaemic Control and Formation of Anti-Insulin Antibodies in Diabetes Mellitus
by Laura Massarenti, Christina Aniol-Nielsen, Christian Enevold, Henrik Toft-Hansen and Claus Henrik Nielsen
Int. J. Mol. Sci. 2022, 23(12), 6481; https://0-doi-org.brum.beds.ac.uk/10.3390/ijms23126481 - 09 Jun 2022
Cited by 4 | Viewed by 1820
Abstract
Single nucleotide polymorphisms (SNPs) in insulin and insulin receptor genes may influence the interaction between the two molecules, as may anti-insulin antibodies (IAs), commonly found in patients with type 1 diabetes mellitus (T1D) or type 2 diabetes mellitus (T2D) treated with exogenous insulin. [...] Read more.
Single nucleotide polymorphisms (SNPs) in insulin and insulin receptor genes may influence the interaction between the two molecules, as may anti-insulin antibodies (IAs), commonly found in patients with type 1 diabetes mellitus (T1D) or type 2 diabetes mellitus (T2D) treated with exogenous insulin. We examined the impact of two SNPs in the human insulin gene (INS), rs3842752 and rs689, and two in the insulin receptor gene (INSR) rs2245649 and rs2229429, on disease susceptibility, glycaemic control, and IAs formation in 100 T1D patients and 101 T2D patients treated with insulin. 79 individuals without diabetes were typed as healthy controls. The minor alleles of rs3842752 and rs689 in INS protected against T1D (OR: 0.50, p = 0.01 and OR: 0.44; p = 0.002, respectively). The minor alleles of both rs2245649 and rs2229429 in INSR were risk factors for poor glycaemic control (HbA1c ≥ 80 mmol/mol) in T1D (OR: 5.35, p = 0.009 and OR: 3.10, p = 0.01, respectively). Surprisingly, the minor alleles of rs2245649 and rs2229429 in INSR associated strongly with the absence of IAs in T1D (OR = 0.28, p = 0.008 and OR = 0.30, p = 0.002, respectively). In conclusion, the minor alleles of the investigated INS SNPs protect against T1D, and the minor alleles of the investigated INSR SNPs are associated with poor glycaemic control and the absence of IAs in T1D. Full article
(This article belongs to the Special Issue New Advance in Diabetes Genetics)
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19 pages, 2024 KiB  
Article
Molecular Mechanisms Underlying the Elevated Expression of a Potentially Type 2 Diabetes Mellitus Associated SCD1 Variant
by Kinga Tibori, Gabriella Orosz, Veronika Zámbó, Péter Szelényi, Farkas Sarnyai, Viola Tamási, Zsolt Rónai, Judit Mátyási, Blanka Tóth, Miklós Csala and Éva Kereszturi
Int. J. Mol. Sci. 2022, 23(11), 6221; https://0-doi-org.brum.beds.ac.uk/10.3390/ijms23116221 - 02 Jun 2022
Cited by 8 | Viewed by 2124
Abstract
Disturbances in lipid metabolism related to excessive food intake and sedentary lifestyle are among major risk of various metabolic disorders. Stearoyl-CoA desaturase-1 (SCD1) has an essential role in these diseases, as it catalyzes the synthesis of unsaturated fatty acids, both supplying for fat [...] Read more.
Disturbances in lipid metabolism related to excessive food intake and sedentary lifestyle are among major risk of various metabolic disorders. Stearoyl-CoA desaturase-1 (SCD1) has an essential role in these diseases, as it catalyzes the synthesis of unsaturated fatty acids, both supplying for fat storage and contributing to cellular defense against saturated fatty acid toxicity. Recent studies show that increased activity or over-expression of SCD1 is one of the contributing factors for type 2 diabetes mellitus (T2DM). We aimed to investigate the impact of the common missense rs2234970 (M224L) polymorphism on SCD1 function in transfected cells. We found a higher expression of the minor Leu224 variant, which can be attributed to a combination of mRNA and protein stabilization. The latter was further enhanced by various fatty acids. The increased level of Leu224 variant resulted in an elevated unsaturated: saturated fatty acid ratio, due to higher oleate and palmitoleate contents. Accumulation of Leu224 variant was found in a T2DM patient group, however, the difference was statistically not significant. In conclusion, the minor variant of rs2234970 polymorphism might contribute to the development of obesity-related metabolic disorders, including T2DM, through an increased intracellular level of SCD1. Full article
(This article belongs to the Special Issue New Advance in Diabetes Genetics)
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Review

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29 pages, 747 KiB  
Review
Insights into the Genetics and Signaling Pathways in Maturity-Onset Diabetes of the Young
by Madalena Sousa, Teresa Rego and Jácome Bruges Armas
Int. J. Mol. Sci. 2022, 23(21), 12910; https://0-doi-org.brum.beds.ac.uk/10.3390/ijms232112910 - 26 Oct 2022
Cited by 3 | Viewed by 1624
Abstract
Diabetes Mellitus (DM) is a complex disease with a significant impact in today’s world. Studies have emphasized the crucial role of genetics in DM, unraveling the distinction of monogenic diabetes from the most common types that have been recognized over the years, such [...] Read more.
Diabetes Mellitus (DM) is a complex disease with a significant impact in today’s world. Studies have emphasized the crucial role of genetics in DM, unraveling the distinction of monogenic diabetes from the most common types that have been recognized over the years, such as type 1 diabetes (T1DM) and type 2 diabetes (T2DM). A literature search was carried out to scrutinize the subtypes of maturity-onset diabetes of the young (MODY), as well as the connection between the recognized genetic and molecular mechanisms responsible for such phenotypes. Thus far, 14 subtypes of MODY have been identified. Here, the authors review the pathophysiological and molecular pathways in which monogenic diabetes genes are involved. Despite being estimated to affect approximately 2% of all T2DM patients in Europe, the exact prevalence of MODY is still unknown, enhancing the need for research focused on biomarkers. Due to its impact in personalized medicine, a follow-up of associated complications, and genetic implications for siblings and offspring of affected individuals, it is imperative to diagnose the monogenic forms of DM accurately. Currently, advances in the genetics field has allowed for the recognition of new DM subtypes, which until now were considered to be slight variations of the typical forms. New molecular insights can define therapeutic strategies, aiming for the prevention, correction, or at least delay of β-cell dysfunction. Thus, it is imperative to act in the close interaction between genetics and clinical manifestations to improve diagnosis and individualize treatment. Full article
(This article belongs to the Special Issue New Advance in Diabetes Genetics)
21 pages, 1683 KiB  
Review
The Genetics of Diabetes: What We Can Learn from Drosophila
by Francesco Liguori, Elisa Mascolo and Fiammetta Vernì
Int. J. Mol. Sci. 2021, 22(20), 11295; https://0-doi-org.brum.beds.ac.uk/10.3390/ijms222011295 - 19 Oct 2021
Cited by 9 | Viewed by 4958
Abstract
Diabetes mellitus is a heterogeneous disease characterized by hyperglycemia due to impaired insulin secretion and/or action. All diabetes types have a strong genetic component. The most frequent forms, type 1 diabetes (T1D), type 2 diabetes (T2D) and gestational diabetes mellitus (GDM), are multifactorial [...] Read more.
Diabetes mellitus is a heterogeneous disease characterized by hyperglycemia due to impaired insulin secretion and/or action. All diabetes types have a strong genetic component. The most frequent forms, type 1 diabetes (T1D), type 2 diabetes (T2D) and gestational diabetes mellitus (GDM), are multifactorial syndromes associated with several genes’ effects together with environmental factors. Conversely, rare forms, neonatal diabetes mellitus (NDM) and maturity onset diabetes of the young (MODY), are caused by mutations in single genes. Large scale genome screenings led to the identification of hundreds of putative causative genes for multigenic diabetes, but all the loci identified so far explain only a small proportion of heritability. Nevertheless, several recent studies allowed not only the identification of some genes as causative, but also as putative targets of new drugs. Although monogenic forms of diabetes are the most suited to perform a precision approach and allow an accurate diagnosis, at least 80% of all monogenic cases remain still undiagnosed. The knowledge acquired so far addresses the future work towards a study more focused on the identification of diabetes causal variants; this aim will be reached only by combining expertise from different areas. In this perspective, model organism research is crucial. This review traces an overview of the genetics of diabetes and mainly focuses on Drosophila as a model system, describing how flies can contribute to diabetes knowledge advancement. Full article
(This article belongs to the Special Issue New Advance in Diabetes Genetics)
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Other

7 pages, 6718 KiB  
Case Report
A Novel Genetic Variant in the WFS1 Gene in a Patient with Partial Uniparental Mero-Isodisomy of Chromosome 4
by Maurizio Delvecchio, Federica Ortolani, Orazio Palumbo, Concetta Aloi, Alessandro Salina, Francesco Claudio Susca, Pietro Palumbo, Massimo Carella, Nicoletta Resta and Elvira Piccinno
Int. J. Mol. Sci. 2021, 22(15), 8082; https://0-doi-org.brum.beds.ac.uk/10.3390/ijms22158082 - 28 Jul 2021
Cited by 1 | Viewed by 1685
Abstract
Wolfram syndrome is a rare autosomal recessive disorder characterized by optic atrophy and diabetes mellitus. Wolfram syndrome type 1 (WFS1) is caused by bi-allelic pathogenic variations in the wolframin gene. We described the first case of WFS1 due to a maternal inherited mutation [...] Read more.
Wolfram syndrome is a rare autosomal recessive disorder characterized by optic atrophy and diabetes mellitus. Wolfram syndrome type 1 (WFS1) is caused by bi-allelic pathogenic variations in the wolframin gene. We described the first case of WFS1 due to a maternal inherited mutation with uniparental mero-isodisomy of chromosome 4. Diabetes mellitus was diagnosed at 11 years of age, with negative anti-beta cells antibodies. Blood glucose control was optimal with low insulin requirement. No pathogenic variations in the most frequent gene causative of maturity-onset diabetes of the young subtypes were detected. At 17.8 years old, a rapid reduction in visual acuity occurred. Genetic testing revealed the novel homozygous variant c.1369A>G; p.Arg457Gly in the exon 8 of wolframin gene. It was detected in a heterozygous state only in the mother while the father showed a wild type sequence. In silico disease causing predictions performed by Polyphen2 classified it as “likely damaging”, while Mutation Tester and Sift suggested it was “polymorphism” and “tolerated”, respectively. High resolution SNP-array analysis was suggestive of segmental uniparental disomy on chromosome 4. In conclusion, to the best of our knowledge, we describe the first patient with partial uniparental mero-isodisomy of chromosome 4 carrying a novel mutation in the wolframin gene. The clinical phenotype observed in the patient and the analysis performed suggest that the genetic variant detected is pathogenetic. Full article
(This article belongs to the Special Issue New Advance in Diabetes Genetics)
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