Emerging Trends in the Study of Inherited Metabolic Disorders

A special issue of Biomedicines (ISSN 2227-9059). This special issue belongs to the section "Gene and Cell Therapy".

Deadline for manuscript submissions: 31 August 2025 | Viewed by 1399

Special Issue Editor


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Guest Editor
Unit on Skeletal Genomics, Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health, Bethesda, MD 20892, USA
Interests: rare genetic skeletal disorders; metabolic disorders; glycogen storage disease (GSD); autophagy; colorectal cancer (CRC) progression; liver and kidney disease; genetically modified mouse models; gene therapy

Special Issue Information

Dear Colleagues,

Inherited metabolic disorders (IMDs) are a diverse group of genetic conditions that disrupt normal metabolic processes, leading to severe and often life-threatening health issues. Recent advancements in molecular biology, genetics, and biotechnology have revolutionized our understanding of these disorders, paving the way for novel diagnostic and therapeutic strategies. This Special Issue aims to provide a comprehensive overview of the latest research and emerging trends in the study of IMDs.

We invite original research articles, reviews, and case studies that explore innovative approaches to understanding the molecular and genetic bases of IMDs, including new insights into disease mechanisms and pathways. Topics of interest include, but are not limited to, the development and application of advanced model systems (such as genetically modified mouse models and patient-derived organoids), gene therapy techniques, and cutting-edge diagnostic tools. Additionally, studies investigating the interplay between metabolic disorders and other conditions, such as cancer, and the exploration of potential biomarkers for early detection and prognosis are highly encouraged.

By bringing together contributions from leading experts in the field, this Special Issue seeks to foster a deeper understanding of IMDs, highlight groundbreaking research, and promote the development of effective treatments that can improve patient outcomes.

Dr. Sudeep Gautam
Guest Editor

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Keywords

  • inherited metabolic disorders
  • glycogen storage diseases
  • genetically modified mouse models
  • liver and kidney disease
  • hepatocellular carcinoma
  • autophagy
  • diabetes mellitus
  • patient-derived organoids
  • gene therapy

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Published Papers (1 paper)

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Research

18 pages, 2515 KiB  
Article
Salivary Proteome Insights: Evaluation of Saliva Preparation Methods in Mucopolysaccharidoses Research
by Maria-Andreea Soporan, Ioana-Ecaterina Pralea, Maria Iacobescu, Radu Cristian Moldovan, Camelia Alkhzouz, Diana Miclea and Cristina-Adela Iuga
Biomedicines 2025, 13(3), 662; https://doi.org/10.3390/biomedicines13030662 - 7 Mar 2025
Viewed by 942
Abstract
Background: This research aimed to compare the traditional in-solution digestion (inSol) and solid-phase-enhanced sample preparation (SP3) methods for salivary proteomics, with a focus on identifying mucopolysaccharidosis (MPS)-relevant proteins. Methods: Saliva samples were processed under multiple analytical conditions, including two precipitation methods (methanol or [...] Read more.
Background: This research aimed to compare the traditional in-solution digestion (inSol) and solid-phase-enhanced sample preparation (SP3) methods for salivary proteomics, with a focus on identifying mucopolysaccharidosis (MPS)-relevant proteins. Methods: Saliva samples were processed under multiple analytical conditions, including two precipitation methods (methanol or incubation with trichloroacetic acid), paired with either Rapigest or 8M urea/2M thiourea (UT) solubilization buffers. Additionally, the SP3 method was directly applied to raw saliva without pre-processing. Proteome coverage, reproducibility, digestion efficiency, and gene function were assessed. Results: The inSol method consistently provided superior proteome coverage, with trichloroacetic acid precipitation and Rapigest buffer yielding 74 MPS-relevant proteins, compared to 40 with SP3 MeOH UT. Both methods showed high digestion efficiency, particularly with Rapigest buffer, achieving over 80% full cleavage across conditions. Functional analysis revealed broad similarities, with protocol-specific impacts on protein classes and cellular components. Conclusions: This study is the first to compare SP3 and in-solution digestion for salivary proteomics, emphasizing the importance of method selection to address matrix-specific challenges. The results highlight the robustness of inSol for comprehensive proteome profiling and SP3′s potential for streamlined clinical workflows, offering valuable insights into optimizing salivary proteomics for biomarker discovery in MPS and other diseases. Full article
(This article belongs to the Special Issue Emerging Trends in the Study of Inherited Metabolic Disorders)
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