Complex Molecular Mechanism of Monogenic Diseases: 3rd Edition
A special issue of Current Issues in Molecular Biology (ISSN 1467-3045). This special issue belongs to the section "Molecular Medicine".
Deadline for manuscript submissions: 10 June 2025 | Viewed by 2985
Special Issue Editor
Interests: gene expression regulation; DNA replication; bacteriophages; plasmids; human genetic diseases; neurodegeneration
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
Dear Colleagues,
This Special Issue is a continuation of our previous Special Issue “Complex Molecular Mechanism of Monogenic Diseases 2.0” (https://www.mdpi.com/journal/cimb/special_issues/IL4684WI14).
Monogenic diseases are defined as genetic disorders caused by mutations in single genes. Therefore, one could assume that their mechanisms might be relatively simple, as a defect in one gene should cause the dysfunction of just one protein or functional RNA molecule. However, recent studies have indicated that molecular mechanisms of monogenic diseases are significantly more complicated. The dysfunction of one gene product results not only in the inactivation of just one biochemical reaction, but a network of various reactions is affected. Then, secondary and tertiary effects sometimes lead to the dysregulation of various cellular processes, including the upregulation or downregulation of the expression of many genes, and the disturbance of the physiology of cells, tissues, organs, and whole organisms. We are only at the beginning of understanding the complicated molecular mechanisms of monogenic diseases. The complex character of such diseases is a biological puzzle and causes real problems for the development of effective therapies. The current number of known monogenic diseases is estimated to be about 7000, and only a few can be specifically treated. Moreover, the vast majority of these diseases are severe disorders, and patients suffering from them need novel effective therapies. Development of such therapies is, however, dependent on a detailed understanding of the mechanisms of each disease. Therefore, this Special Issue is focused on research conducted to understand complex molecular mechanisms of monogenic diseases. Both original papers, presenting clinical or experimental studies (using cellular and/or animal models) on understanding the pathomechanisms of such diseases, and review articles, summarizing our knowledge and proposing new hypotheses in the field, are welcome. The submission of papers exploring the unexpected complexity of newly discovered changes occurring as consequences of dysfunctions or dysregulations of single genes is particularly encouraged.
Prof. Dr. Grzegorz Wegrzyn
Guest Editor
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Keywords
- cystic fibrosis
- sickle cell disease
- duchenne muscular dystrophy
- inherited monogenic disease
- molecular mechanisms
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