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Metabolic Diseases and Genetic Variants

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

Deadline for manuscript submissions: 15 November 2024 | Viewed by 477

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Guest Editor
Genome Institute of Singapore, Agency for Science, Technology and Research (A*STAR), Singapore 138672, Singapore
Interests: genetics; ageing; chronic diseases; risk predictions
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Metabolic Disease is a set of co-morbidities that collectively increase an individual’s risk of developing cardiovascular disease, stroke, and type 2 diabetes mellitus (T2D). The last decade has witnessed a deluge of Genome-Wide Association Studies (GWAS) that have linked hundreds of genomics with both collective MetS traits and individual metabolic disorders sitting within it. Currently, in the post-GWAS era, the focus has shifted to the characterization of this novel genomics to establish causality and disease relevance. This is being pursued through functional validation such as gain- and loss-of-function studies, investigating resulting metabolic phenotypes, mechanisms and pathways underlying these phenotypes, their prevalence, and potential for risk stratification across populations, and finally, identification of therapeutic targets for pharmacological intervention.

The major goal of this article collection is to highlight the role of novel genetic variants in the pathophysiology of metabolic diseases sitting within MetS. This collection will include articles in any format, ie. original contributions, and reviews to focus on the following sub-categories of MetS:

  • Non-alcoholic fatty liver disease (NAFLD) and non-alcoholic steatohepatitis (NASH)
  • Obesity
  • T2D and insulin resistance
  • Cardiovascular and cardiometabolic traits

Despite several challenges, GWAS-backed exploration of disease biology has vastly improved our understanding of the genetic basis of human disease. With this article collection, we hope to continue the quest for identifying genetic variants and their role in metabolic diseases, all the way from functional validation to therapeutic potential.

Dr. Rajkumar Dorajoo
Guest Editor

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Keywords

  • genetic variants
  • DNA sequencing
  • metabolic disease
  • whole exome sequencing
  • quantitative trait loci
  • fine-mapping
  • epidemiology
  • omics
  • T2D
  • obesity

Published Papers (1 paper)

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Research

13 pages, 1086 KiB  
Article
Congenital Hyperinsulinism Caused by Mutations in ABCC8 Gene Associated with Early-Onset Neonatal Hypoglycemia: Genetic Heterogeneity Correlated with Phenotypic Variability
by Lăcrămioara Ionela Butnariu, Delia Andreia Bizim, Gabriela Păduraru, Luminița Păduraru, Ștefana Maria Moisă, Setalia Popa, Nicoleta Gimiga, Gabriela Ghiga, Minerva Codruța Bădescu, Ancuta Lupu, Ioana Vasiliu and Laura Mihaela Trandafir
Int. J. Mol. Sci. 2024, 25(10), 5533; https://doi.org/10.3390/ijms25105533 - 19 May 2024
Viewed by 287
Abstract
Congenital hyperinsulinism (CHI) is a rare disorder of glucose metabolism and is the most common cause of severe and persistent hypoglycemia (hyperinsulinemic hypoglycemia, HH) in the neonatal period and childhood. Most cases are caused by mutations in the ABCC8 and KCNJ11 genes that [...] Read more.
Congenital hyperinsulinism (CHI) is a rare disorder of glucose metabolism and is the most common cause of severe and persistent hypoglycemia (hyperinsulinemic hypoglycemia, HH) in the neonatal period and childhood. Most cases are caused by mutations in the ABCC8 and KCNJ11 genes that encode the ATP-sensitive potassium channel (KATP). We present the correlation between genetic heterogeneity and the variable phenotype in patients with early-onset HH caused by ABCC8 gene mutations. In the first patient, who presented persistent severe hypoglycemia since the first day of life, molecular genetic testing revealed the presence of a homozygous mutation in the ABCC8 gene [deletion in the ABCC8 gene c.(2390+1_2391-1)_(3329+1_3330-1)del] that correlated with a diffuse form of hyperinsulinism (the parents being healthy heterozygous carriers). In the second patient, the onset was on the third day of life with severe hypoglycemia, and genetic testing identified a heterozygous mutation in the ABCC8 gene c.1792C>T (p.Arg598*) inherited on the paternal line, which led to the diagnosis of the focal form of hyperinsulinism. To locate the focal lesions, (18)F-DOPA (3,4-dihydroxy-6-[18F]fluoro-L-phenylalanine) positron emission tomography/computed tomography (PET/CT) was recommended (an investigation that cannot be carried out in the country), but the parents refused to carry out the investigation abroad. In this case, early surgical treatment could have been curative. In addition, the second child also presented secondary adrenal insufficiency requiring replacement therapy. At the same time, she developed early recurrent seizures that required antiepileptic treatment. We emphasize the importance of molecular genetic testing for diagnosis, management and genetic counseling in patients with HH. Full article
(This article belongs to the Special Issue Metabolic Diseases and Genetic Variants)
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