Molecular Mechanisms of Genetic Variants of Parkinson’s Disease
A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Neurobiology".
Deadline for manuscript submissions: 20 July 2025 | Viewed by 1578
Special Issue Editors
Interests: Parkinson's; Alzheimer's
2. Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem 9112102, Israel
Interests: Gaucher disease; lysosomal disorders; GBA-related Parkinson disease
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
Dear Colleagues,
Over the years, scientists have studied DNA from people with Parkinson's, comparing their genes. They discovered dozens of gene mutations linked to Parkinson's. These genes are now being researched and studied for what role they play in Parkinson's.
Researchers are only beginning to understand the role genes play in Parkinson's—like if certain genes cause Parkinson's and how other genes may protect some people from developing it.
In 1996, the first report suggesting a possible relationship between Gaucher disease (GD) and Parkinson’s disease (PD) was published in QJM, with the clinical observation that, in patients with both diagnoses, GD was relatively mild whereas PD was more severe, with an earlier age of onset and with a faster rate of deterioration compared with non-GD-related PD. Subsequently, it has become apparent that the increased risk of PD also applies to carriers of GD (GBA1 carriers) and is greater in individuals with gene variations other than N370S. This association has become textbook knowledge, with GBA1-related PD being described as an autosomal dominant disorder. Understanding the underlying pathological processes leading to the development of this neurodegenerative disorder at the molecular and cellular levels in 3 to 15% of GBA1 carriers should allow for the development of specific interventions, as is already happening; the controversy between competing hypotheses of loss of function (haploinsufficiency) versus gain of function has translated into different therapeutic approaches: substrate reduction therapy or in vivo gene therapy are being investigated on the one hand, while those supporting the gain-of-function mechanism are examining pharmacological chaperones able to cross the blood–brain barrier as a therapeutic modality. It is now time to consider testing individuals at risk for prodromal PD, with the early introduction of disease-modifying agents to aid in PD prevention.
Our Special Issue will accept papers covering all aspects of genetic variants of Parkinson's disease. Please note for IJMS's paper, clinical trials, and animal and cell testings are eligible only if they are strongly needed to support hypotheses or theories concerning structure–function correlations and are not suitable if no molecular aspects are considered.
Prof. Dr. Michael Schlossmacher
Prof. Dr. Ari Zimran
Guest Editor
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Keywords
- DNA
- PD prevention
- genetic variants of Parkinson's disease
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