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Recent Progress in Metabolic Diseases
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Recent Progress in Metabolic Diseases

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Pathology, Diagnostics, and Therapeutics".

Deadline for manuscript submissions: 31 December 2025 | Viewed by 2712

Special Issue Editor

Prof. Dr. Dariusz Chlubek

E-Mail Website
Guest Editor
Department of Biochemistry and Medical Chemistry, Pomeranian Medical University, Szczecin, Poland
Interests: metabolism of trace elements; toxic elements; ecotoxicology
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Metabolic diseases are one of the main causes of mortality in the global population. Their etiology is very diverse, but always related to metabolic alterations at the molecular level. Many of these diseases are caused by abnormalities in the function of enzymes, the activity of which determines the course of biochemical reactions, which are components of catabolic or anabolic pathways.

Considering the above, it is obvious that progress in the prevention, diagnosis, and treatment of metabolic diseases will not be possible without intensive scientific research that will clearly explain their causes at the molecular level, but will also enable the development of diagnostic and therapeutic strategies. With this in mind, I am pleased to invite scientists involved in the molecular research of metabolic diseases to publish their latest achievements in this Special Issue.

Prof. Dr. Dariusz Chlubek
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.

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Keywords

  • metabolic diseases
  • enzymes related to metabolic disorders
  • inborn errors of metabolism
  • inherited single-gene anomalies
  • molecular diagnostics in metabolic disorders

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Published Papers (3 papers)

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Research

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17 pages, 5098 KiB  
Article
The Arg108Cys Variant of Methylmalonyl-CoA Mutase: Clinical Implications for the Mexican Population Based on Molecular Dynamics and Docking
by Marcela Vela-Amieva, Timoteo Delgado-Maldonado, Enrique Ortega-Valdez, Gildardo Rivera, Gabriel López-Velázquez and Cynthia Fernández-Lainez
Int. J. Mol. Sci. 2025, 26(7), 2887; https://doi.org/10.3390/ijms26072887 - 22 Mar 2025
Viewed by 658
Abstract
Methylmalonic acidemia (MMA) is a genetic condition associated with intellectual disability and a high mortality rate. It is caused by pathogenic variants in the MMUT gene, which codes methylmalonyl-CoA mutase enzyme (MUT). In the Mexican population, the variant NM_000255.4:c.322C>T or p.(Arg108Cys) is the [...] Read more.
Methylmalonic acidemia (MMA) is a genetic condition associated with intellectual disability and a high mortality rate. It is caused by pathogenic variants in the MMUT gene, which codes methylmalonyl-CoA mutase enzyme (MUT). In the Mexican population, the variant NM_000255.4:c.322C>T or p.(Arg108Cys) is the most frequently found, but its structural pathogenic effect is scarcely studied. To describe the clinical picture of p.(Arg108Cys) homozygous patients and to predict its structural pathogenic effect, we performed an analysis of the medical files from six MMA Mexican p.(Arg108Cys) homozygous patients. The structural changes in MUT caused by this variant were analyzed through molecular dynamics simulations (MDS) and docking and compared with the wild-type (Wt) enzyme. The main clinical symptoms presented by the patients were feeding difficulties, lethargy, and neurodevelopmental delay, with a predominance of early-onset phenotype and a mortality rate of 83%. We found significant structural changes in MUT structure, particularly in the catalytic domain, with increased volume cavity, shortening of the binding substrate tunnel, and aberrant accommodation. Also, the dimerization interface area increased from 1343 Å2 in the Wt to 3386 Å2, and the dimer formation involved a different set of amino acids. The NM_000255.4:c.322C>T or p.(Arg108Cys) MMUT variant is associated with a severe outcome in MMA Mexican patients, and the enzyme was associated with ostentatious topological changes in the secondary and tertiary structure, which impacted the catalytic domain, the accommodation of the substrate, and the dimerization interface. Further ex vivo functional studies are needed to confirm these predictions, such as enzymatic activity measurements in fibroblasts of patients. Full article
(This article belongs to the Special Issue Recent Progress in Metabolic Diseases)
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12 pages, 724 KiB  
Article
Mendelian Randomization Study on hs-CRP and Dyslipidemia in Koreans: Identification of Novel SNP rs76400217
by Ximei Huang, Youngmin Han and Minjoo Kim
Int. J. Mol. Sci. 2025, 26(2), 506; https://doi.org/10.3390/ijms26020506 - 9 Jan 2025
Viewed by 1337
Abstract
High-sensitivity C-reactive protein (hs-CRP) is a marker of systemic inflammation and is associated with developing dyslipidemia. However, the causality between hs-CRP and dyslipidemia remains unresolved. This study aimed to investigate the relationship between hs-CRP concentrations and dyslipidemia and to explore the potential causal [...] Read more.
High-sensitivity C-reactive protein (hs-CRP) is a marker of systemic inflammation and is associated with developing dyslipidemia. However, the causality between hs-CRP and dyslipidemia remains unresolved. This study aimed to investigate the relationship between hs-CRP concentrations and dyslipidemia and to explore the potential causal link using Mendelian randomization (MR) analysis. A nested case–control study was conducted with 1174 participants, and genotype data were analyzed using the Korean Chip. A genome-wide association study (GWAS) identified rs76400217 as a suitable instrumental variable (IV) due to its significant association with hs-CRP (p < 10−8). Logistic regression models, adjusted for confounders, were used to evaluate the association between hs-CRP and dyslipidemia. An MR analysis was performed using a two-stage least squares (2SLS) method, with rs76400217 as the IV to assess causality. Logistic regression showed a significant association between hs-CRP concentrations and dyslipidemia (OR 2.08, 95% CI: 1.81–2.39, p < 0.001). This association remained significant after adjusting for factors such as age, sex, alcohol consumption, and BMI. The MR analysis using rs76400217 as the IV confirmed the strong associations with hs-CRP concentrations (p < 0.001) in all models, but the causality between hs-CRP and dyslipidemia was not statistically significant. Thus, no evidence of a causal relationship between hs-CRP and the risk of dyslipidemia was found in the Korean population. The strong association observed between hs-CRP and dyslipidemia may be due to other contributing factors rather than a direct cause. Full article
(This article belongs to the Special Issue Recent Progress in Metabolic Diseases)
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Review

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26 pages, 1797 KiB  
Review
Exploring Recent Developments in the Manifestation, Diagnosis, and Treatment of Patients with Smith–Lemli–Opitz Syndrome: From Molecular Pathways to Clinical Innovations
by Aleksandra Żukowska, Małgorzata Król, Patrycja Kupnicka, Katarzyna Bąk, Kamil Janawa and Dariusz Chlubek
Int. J. Mol. Sci. 2025, 26(14), 6672; https://doi.org/10.3390/ijms26146672 - 11 Jul 2025
Viewed by 236
Abstract
Smith–Lemli–Opitz syndrome (SLOS) is a rare, autosomal recessive genetic disorder caused by mutations in the DHCR7 gene, which encodes the enzyme responsible for the final step in cholesterol biosynthesis. Impaired enzyme function leads to cholesterol deficiency, affecting the development and function of the [...] Read more.
Smith–Lemli–Opitz syndrome (SLOS) is a rare, autosomal recessive genetic disorder caused by mutations in the DHCR7 gene, which encodes the enzyme responsible for the final step in cholesterol biosynthesis. Impaired enzyme function leads to cholesterol deficiency, affecting the development and function of the entire organism. The accumulation of cholesterol precursors enhances the formation of oxysterols, which are involved in the pathomechanism of neurological, ophthalmological, and vascular changes in patients. This review analyzes 53 studies published between 2020 and 2025 on the molecular mechanisms underlying the clinical features of SLOS, including cholesterol deficiency, oxysterol accumulation, and the latest diagnostic methods, including LC-MS/MS chromatography and biomarkers such as GFAP for monitoring disease progression. MRI is discussed as a supportive tool for neuroimaging, along with advances in prenatal diagnostics, such as the detection of cholesterol precursors in neonatal hair. Therapeutic options are also reviewed, with particular emphasis on cholesterol supplementation, cholic acid, and experimental treatments such as vitamin E supplementation, statin therapy, gene therapy, and liver transplantation. Current research indicates that expanding knowledge in this area not only improves patient prognosis but also provides hope for the development of effective therapies in the future. Full article
(This article belongs to the Special Issue Recent Progress in Metabolic Diseases)
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