Genetic and Metabolic Liver Disorders: Advances in Diagnosis, Disease Mechanisms and Treatment
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 2026 | Viewed by 79
Special Issue Editors
Interests: liver pathology; genetic liver disease
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
Dear Colleagues,
This Special Issue concerns basic knowledge of genetic liver disease. The introductory article explains genetic analysis by progressing from diagnosis and gene discovery (Sanger sequencing) to Next-Generation Sequencing (NGS) in clinic and to Genomic-informed Hepatology, rapidly curtailing the number of cases that remain unexplained. Diagnosis and pathogenetic mechanisms, considered by paring genetic data with clinical acumen and expert histopathological evaluation, are essential for therapy.
One challenge faced by this Special Issue will be demarcating the border between gene-causing disease and genes that, when mutated, are associated with a disease. This subject will be considered via case-based discussion.
Distinguishing the primary effects of mutations from secondary consequences is vital, as the former can be cured only via gene therapy or liver transplantation, while the latter can likely be medically treated to alleviate and slow disease progression. As autophagy plays an important role in the physiology and pathology of the liver, it has become a new target for the treatment of liver diseases, so providing updated knowledge on autophagy disorders and autophagy in the pathogenesis of liver disease would be a timely development.
This echoes the Daedalus myth as a metaphor for aspects of scientific processes, as first proposed by B.S. Blumberg, who said that “when a problem is solved it often raises others, and when these in turn are solved they generate additional questions”.
Other potential topics of this Special Issue include the roles of modifiers, epigenetic and environmental factors, “second hit” in monoallelic variants, and single-nucleotide polymorphism (SNP) markers in the disease and phenotype, genotype–phenotype correlation, and compound heterozygosity of pathogenetic and VUS mutations.
Further topics of interest include genetic histopathological or biochemical investigations on explanted livers for fulminant acute hepatitis or end-stage liver disease of unknown origin, as well as on pre-explant diagnosed liver disease, aiming to identify signs reflecting pathogenetic mechanisms or response to treatment.
Another topic of interest is non-alcoholic fatty liver disease, which is now recognized as the most common type of chronic liver disease. The evolution of clinical and histological terminology, as well as the results of genomic-wide association studies (GWASs) and the discovery of robust associations between gene variants and candidate genes associated with hereditability, will be covered.
This Special Issue welcomes original research articles, comprehensive reviews, communications, and case-based discussions that provide novel insights into the molecular and genetic foundations of hepatology.
Prof. Dr. Francesco Callea
Dr. Emanuele Agolini
Guest Editors
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Keywords
- genetic liver disease
- metabolic disorders
- disease mechanisms
- genotype–phenotype correlation
- compound heterozygosity
- pathogenetic mutations
- VUS mutations
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