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Wilson’s Disease: Update on Pathophysiology and Therapeutic Strategies
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Wilson’s Disease: Update on Pathophysiology and Therapeutic Strategies

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: closed (20 March 2025) | Viewed by 4469

Special Issue Editors

Prof. Dr. Grazyna Gromadzka

E-Mail Website
Guest Editor
Medical Faculty, Collegium Medicum, Department of Biomedical Sciences, Cardinal Stefan Wyszyński University in Warsaw, Wóycickiego Street 1/3, 01-938 Warsaw, Poland
Interests: genetics; immunology; neuroimmunology; molecular biology; autoimmune disease; neurodegeneration; stroke; metabolic disease; personalized medicine; oncology
Special Issues, Collections and Topics in MDPI journals
Dr. Adam Przybyłkowski

E-Mail Website
Guest Editor
Department of Gastroenterology and General Medicine, Medical University of Warsaw, Żwirki i Wigury Street 61, 02-091 Warsaw, Poland
Interests: hepatology; gastroenterology; liver disease; metabolic disease; transplantology; clinical pharmacology

Special Issue Information

Dear Colleagues,

Since neurologist Kinnier Wilson described the clinical features of four patients with progressive lens degeneration and cirrhosis in 1912, many discoveries have been made that have led to an understanding of the genetic basis of Wilson’s disease and the biochemical abnormalities underlying tissue damage and clinical symptoms. Treatment methods have been proposed to reduce the body’s copper overload. Thanks to the development of research techniques, genetic and biochemical diagnostic methods are being improved.

However, early diagnosis of the disease and appropriate treatment and monitoring of side effects remain problematic. Many issues need to be clarified, including the causes of variability in the clinical picture of the disease, the varied response to treatment, and the deterioration of the neurological condition observed in some patients during treatment.

The aim of this Special Issue is to provide space for the latest research on molecular processes important in the pathogenesis of the disease and modifying the clinical picture, mechanisms of drug side effects, as well as the possibility of using innovative genetic, cellular, and molecular methods of treatment.

We invite you to submit various types of papers, including research papers, up-to-date review articles, and commentaries. We also invite you to formulate hypotheses, based on existing knowledge, that can serve as inspiration for further research.

Prof. Dr. Grazyna Gromadzka
Dr. Adam Przybyłkowski
Guest Editors

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

  • Wilson disease
  • genetics/epigenetics
  • pathogenesis
  • treatment
  • modifying factors
  • oxidative stress copper/iron/manganese
  • mitochondria
  • metalloproteinases
  • inflammation/immunity

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Published Papers (1 paper)

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Review

39 pages, 2843 KiB  
Review
Wilson’s Disease—Crossroads of Genetics, Inflammation and Immunity/Autoimmunity: Clinical and Molecular Issues
by Grażyna Gromadzka, Julia Czerwińska, Elżbieta Krzemińska, Adam Przybyłkowski and Tomasz Litwin
Int. J. Mol. Sci. 2024, 25(16), 9034; https://doi.org/10.3390/ijms25169034 - 20 Aug 2024
Cited by 7 | Viewed by 3924
Abstract
Wilson’s disease (WD) is a rare, autosomal recessive disorder of copper metabolism caused by pathogenic mutations in the ATP7B gene. Cellular copper overload is associated with impaired iron metabolism. Oxidative stress, cuproptosis, and ferroptosis are involved in cell death in WD. The clinical [...] Read more.
Wilson’s disease (WD) is a rare, autosomal recessive disorder of copper metabolism caused by pathogenic mutations in the ATP7B gene. Cellular copper overload is associated with impaired iron metabolism. Oxidative stress, cuproptosis, and ferroptosis are involved in cell death in WD. The clinical picture of WD is variable. Hepatic/neuropsychiatric/other symptoms may manifest in childhood/adulthood and even old age. It has been shown that phenotypic variability may be determined by the type of ATP7B genetic variants as well as the influence of various genetic/epigenetic, environmental, and lifestyle modifiers. In 1976, immunological abnormalities were first described in patients with WD. These included an increase in IgG and IgM levels and a decrease in the percentage of T lymphocytes, as well as a weakening of their bactericidal effect. Over the following years, it was shown that there is a bidirectional relationship between copper and inflammation. Changes in serum cytokine concentrations and the relationship between cytokine gene variants and the clinical course of the disease have been described in WD patients, as well as in animal models of this disease. Data have also been published on the occurrence of antinuclear antibodies (ANAs), antineutrophil cytoplasmic antibodies (ANCAs), anti-muscle-specific tyrosine kinase antibodies, and anti-acetylcholine receptor antibodies, as well as various autoimmune diseases, including systemic lupus erythematosus (SLE), myasthenic syndrome, ulcerative colitis, multiple sclerosis (MS), polyarthritis, and psoriasis after treatment with d-penicillamine (DPA). The occurrence of autoantibodies was also described, the presence of which was not related to the type of treatment or the form of the disease (hepatic vs. neuropsychiatric). The mechanisms responsible for the occurrence of autoantibodies in patients with WD are not known. It has also not been clarified whether they have clinical significance. In some patients, WD was differentiated or coexisted with an autoimmune disease, including autoimmune hepatitis or multiple sclerosis. Various molecular mechanisms may be responsible for immunological abnormalities and/or the inflammatory processes in WD. Their better understanding may be important for explaining the reasons for the diversity of symptoms and the varied course and response to therapy, as well as for the development of new treatment regimens for WD. Full article
(This article belongs to the Special Issue Wilson’s Disease: Update on Pathophysiology and Therapeutic Strategies)
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