Recent Advances in Parkinson's Disease

A special issue of Journal of Personalized Medicine (ISSN 2075-4426). This special issue belongs to the section "Mechanisms of Diseases".

Deadline for manuscript submissions: closed (30 June 2022) | Viewed by 4566

Special Issue Editor


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Guest Editor
Department of Neurological Sciencies and Mental Health, University of Milano, Fondazione Ca’ Granda, IRCCS, Ospedale Maggiore Policlinico, Milan, Italy
Interests: neurochemistry; magnetic resonance advanced techniques; brain temperature

Special Issue Information

Dear Colleagues,

Parkinson’s disease is the second most common neurodegenerative disease in the world and affects millions of people globally. Much is left to discover about this disease. There is no resolutive treatment; the cause is unknown; diagnostic tools are scanty; and, so far, it remains essentially a clinical diagnosis.

However, in the recent decades several treatments have been available that alleviate signs and symptoms. Pathogenesis as well as some genetic aspects have been partially clarified and linked to clinical pictures. Magnetic Resonance is being used to study brain modification related to the disease. Other diagnostic tools are being developed, and we are about to reach the goal of personalized medicine applied to Parkinson’s disease.

We need to assess our current position in order to move forward.

Dr. Mario Rango
Guest Editor

Manuscript Submission Information

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Keywords

  • genetics
  • treatment
  • magnetic resonance
  • pathogenesis
  • mitochondria
  • metabolomics
  • proteomics
  • neurosurgery

Published Papers (2 papers)

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Research

16 pages, 3216 KiB  
Article
Impact of Single Amino Acid Substitutions in Parkinsonism-Associated Deglycase-PARK7 and Their Association with Parkinson’s Disease
by Farah Anjum, Namrata Joshia, Taj Mohammad, Alaa Shafie, Fahad A. Alhumaydhi, Mohammad A. Aljasir, Moyad J. S. Shahwan, Bekhzod Abdullaev, Mohd Adnan, Abdelbaset Mohamed Elasbali, Visweswara Rao Pasupuleti and Md Imtaiyaz Hassan
J. Pers. Med. 2022, 12(2), 220; https://doi.org/10.3390/jpm12020220 - 5 Feb 2022
Cited by 5 | Viewed by 2248
Abstract
Parkinsonism-associated deglycase-PARK7/DJ-1 (PARK7) is a multifunctional protein having significant roles in inflammatory and immune disorders and cell protection against oxidative stress. Mutations in PARK7 may result in the onset and progression of a few neurodegenerative disorders such as Parkinson’s disease. This study has [...] Read more.
Parkinsonism-associated deglycase-PARK7/DJ-1 (PARK7) is a multifunctional protein having significant roles in inflammatory and immune disorders and cell protection against oxidative stress. Mutations in PARK7 may result in the onset and progression of a few neurodegenerative disorders such as Parkinson’s disease. This study has analyzed the non-synonymous single nucleotide polymorphisms (nsSNPs) resulting in single amino acid substitutions in PARK7 to explore its disease-causing variants and their structural dysfunctions. Initially, we retrieved the mutational dataset of PARK7 from the Ensembl database and performed detailed analyses using sequence-based and structure-based approaches. The pathogenicity of the PARK7 was then performed to distinguish the destabilizing/deleterious variants. Aggregation propensity, noncovalent interactions, packing density, and solvent accessible surface area analyses were carried out on the selected pathogenic mutations. The SODA study suggested that mutations in PARK7 result in aggregation, inducing disordered helix and altering the strand propensity. The effect of mutations alters the number of hydrogen bonds and hydrophobic interactions in PARK7, as calculated from the Arpeggio server. The study indicated that the alteration in the hydrophobic contacts and frustration of the protein could alter the stability of the missense variants of the PARK7, which might result in disease progression. This study provides a detailed understanding of the destabilizing effects of single amino acid substitutions in PARK7. Full article
(This article belongs to the Special Issue Recent Advances in Parkinson's Disease)
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15 pages, 1969 KiB  
Article
Circumpapillary Retinal Nerve Fiber Layer OCT Imaging in a Parkinson’s Disease Cohort—A Multidisciplinary Approach in a Clinical Research Hospital
by Vlad-Ioan Suciu, Corina-Iuliana Suciu, Simona-Delia Nicoară and Lăcrămioara Perju-Dumbravă
J. Pers. Med. 2022, 12(1), 80; https://doi.org/10.3390/jpm12010080 - 9 Jan 2022
Cited by 2 | Viewed by 1580
Abstract
(1) Background: The purpose of this paper is to report the data of the first study in a Clinical Research Hospital, in the Transylvania region, focusing on the Spectral Domain Optical Coherence Tomography (SD-OCT) measurements in the early stages of Parkinson’s disease (PD), [...] Read more.
(1) Background: The purpose of this paper is to report the data of the first study in a Clinical Research Hospital, in the Transylvania region, focusing on the Spectral Domain Optical Coherence Tomography (SD-OCT) measurements in the early stages of Parkinson’s disease (PD), and to compare the results with age-matched healthy controls. (2) Methods: This study assessed the circumpapillary retinal nerve fiber layer (cpRNFL) SD-OCT measurements (Heidelberg Spectralis, Heidelberg Engineering, Germany) of two study groups: patients suffering from PD (Hoehn−Yahr stages 1–3) and healthy controls. Secondary objectives were to investigate the reported visual symptoms by evaluating the color vision, contrast sensitivity, and the central visual defects for macular disease using standardized charts. Subjects with prior history of ophthalmologic diseases, advanced stages of PD (Hoehn−Yahr stages 4–5), or with psychiatric conditions were not included in this study. The same team of neurologists and ophthalmologists evaluated all individuals in order to have comparable data and to eliminate inter-examiner differences. All subjects were recruited from the same Clinical Research Hospital in the Transylvania region, Romania. (3) Results: 72% of the PD patients (n = 17) in this study reported visual symptoms. In respect to the ophthalmologic chart evaluation for PD patients, the most frequent disturbances were identified in the Ishihara color perception testing (33%). The regression analysis showed significant results for the Ishihara testing in relation to the cpRNFL thinning in the temporal retinal sectors for both eyes. cpRNFL thinning was predominantly contralateral to the parkinsonism (p = 0.001). The temporal and global values of the cpRNFL were significantly lower in all PD patients < 70 years old, compared to the age-matched healthy controls. (4) Conclusions: Specific patterns of cpRNFL thinning were found in the PD subjects younger than 70 years. A multidisciplinary approach is essential for a complete evaluation of PD patients. Full article
(This article belongs to the Special Issue Recent Advances in Parkinson's Disease)
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