ijms-logo

Journal Browser

Journal Browser

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: closed (20 November 2024) | Viewed by 244

Special Issue Editors


E-Mail Website
Guest Editor
Department of Cellular and Molecular Medicine, Faculty of Medicine, University of Ottawa, Ottawa, ON K1H 8M5, Canada
Interests: Parkinson's; Alzheimer's

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

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

  • DNA
  • PD prevention
  • genetic variants of Parkinson's disease

Benefits of Publishing in a Special Issue

  • Ease of navigation: Grouping papers by topic helps scholars navigate broad scope journals more efficiently.
  • Greater discoverability: Special Issues support the reach and impact of scientific research. Articles in Special Issues are more discoverable and cited more frequently.
  • Expansion of research network: Special Issues facilitate connections among authors, fostering scientific collaborations.
  • External promotion: Articles in Special Issues are often promoted through the journal's social media, increasing their visibility.
  • e-Book format: Special Issues with more than 10 articles can be published as dedicated e-books, ensuring wide and rapid dissemination.

Further information on MDPI's Special Issue polices can be found here.

Published Papers

There is no accepted submissions to this special issue at this moment.
Back to TopTop