scholarly journals Comprehensive assessment of PINK1 variants in Parkinson’s disease

2020 ◽  
Author(s):  
Lynne Krohn ◽  
Francis P. Grenn ◽  
Mary B. Makarious ◽  
Jonggeol Jeffrey Kim ◽  
Sara Bandres-Ciga ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Risk Factor ◽  
Autosomal Recessive ◽  
Disease Susceptibility ◽  
Large Datasets ◽  
The Past ◽  
Increased Risk ◽  
Early Onset Parkinson’S Disease

AbstractMultiple genes have been associated with monogenic Parkinson’s disease and Parkinsonism syndromes. Mutations in PINK1 (PARK6) have been shown to result in autosomal recessive early onset Parkinson’s disease. In the past decade, several studies have suggested that carrying a single heterozygous PINK1 mutation is associated with increased risk for Parkinson’s disease. Here we comprehensively assess the role of PINK1 variants in Parkinson’s disease susceptibility using several large datasets totalling 376,558 individuals including: 13,708 Parkinson’s disease cases and 362,850 controls. After combining these data, we did not find evidence to support a role for heterozygous PINK1 mutations as a risk factor for Parkinson’s disease.

scholarly journals Mitochondrial Serine Protease HTRA2 p.G399S in a Female with Di George Syndrome and Parkinson’s Disease

2018 ◽  
Vol 2018 ◽  
pp. 1-6 ◽  
Author(s):  
Stefano Gambardella ◽  
Rosangela Ferese ◽  
Simona Scala ◽  
Stefania Carboni ◽  
Francesca Biagioni ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Risk Factor ◽  
Sequencing Analysis ◽  
Pathogenetic Role ◽  
Number Of Patients ◽  
History Of ◽  
Early Onset Parkinson’S Disease ◽  
Di George Syndrome

Deletion at 22q11.2 responsible for Di George syndrome (DGs) is a risk factor for early-onset Parkinson’s disease (EOPD). To date, all patients reported with 22q11.2 deletions and parkinsonian features are negative for a family history of PD, and possible mutations in PD-related genes were not properly evaluated. The goal of this paper was to identify variants in PD genes that could contribute, together with 22q11.2 del, to the onset of parkinsonian features in patients affected by Di George syndrome. To this aim, sequencing analysis of 4800 genes including 17 PD-related genes was performed in a patient affected by DGs and EOPD. The analysis identified mutation p.Gly399Ser in OMI/HTRA2 (PARK13). To date, the mechanism that links DGs with parkinsonian features is poorly understood. The identification of a mutation in a PARK gene suggests that variants in PD-related genes, or in genes still not associated with PD, could contribute, together with deletion at 22q11.2, to the EOPD in patients affected by DGs. Further genetic analyses in a large number of patients are strongly required to understand this mechanism and to establish the pathogenetic role of p.Gly399Ser in OMI/HTRA2.

scholarly journals The Role of the Dopamine β-hydroxylase Functional Polymorphism in Patients with Early-Onset Parkinson’s Disease in the Turkish Population

2021 ◽  
Vol 27 (1) ◽  
pp. 21-26
Author(s):  
Sevda Erer ◽  
Işıl Ezgi Eryılmaz ◽  
Dilara Kamer Çolak ◽  
Ünal Egeli ◽  
Gülşah Çeçener ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Early Onset ◽  
Turkish Population ◽  
Functional Polymorphism ◽  
Early Onset Parkinson’S Disease

The role of one-carbon metabolism and homocysteine in Parkinson’s disease onset, pathology and mechanisms

2019 ◽  
Vol 32 (2) ◽  
pp. 218-230 ◽  
Author(s):  
Lauren K. Murray ◽  
Nafisa M. Jadavji
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Carbon Metabolism ◽  
Animal Studies ◽  
B Vitamins ◽  
Present Review ◽  
Increased Risk ◽  
One Carbon Metabolism ◽  
B Vitamin

AbstractParkinson’s disease (PD) is the second most common neurodegenerative disorder. It is characterised by the progressive degeneration of dopaminergic (DA) neurons. The cause of degeneration is not well understood; however, both genetics and environmental factors, such as nutrition, have been implicated in the disease process. Deficiencies in one-carbon metabolism in particular have been associated with increased risk for PD onset and progression, though the precise relationship is unclear. The aim of the present review is to determine the role of one-carbon metabolism and elevated levels of homocysteine in PD onset and pathology and to identify potential mechanisms involved. A search of PubMed, Google Scholar and Web of Science was undertaken to identify relevant human and animal studies. Case–control, prospective cohort studies, meta-analyses and non-randomised trials were included in the present review. The results from human studies indicate that polymorphisms in one-carbon metabolism may increase risk for PD development. There is an unclear role for dietary B-vitamin intake on PD onset and progression. However, dietary supplementation with B-vitamins may be beneficial for PD-affected individuals, particularly those on l-DOPA (levodopa or l-3,4-dihydroxyphenylalanine) treatment. Additionally, one-carbon metabolism generates methyl groups, and methylation capacity in PD-affected individuals is reduced. This reduced capacity has an impact on expression of disease-specific genes that may be involved in PD progression. During B-vitamin deficiency, animal studies report increased vulnerability of DA cells through increased oxidative stress and altered methylation. Nutrition, especially folates and related B-vitamins, may contribute to the onset and progression of PD by making the brain more vulnerable to damage; however, further investigation is required.

scholarly journals The Benefits of Humanized Yeast Models to Study Parkinson’s Disease

2013 ◽  
Vol 2013 ◽  
pp. 1-9 ◽  
Author(s):  
V. Franssens ◽  
T. Bynens ◽  
J. Van den Brande ◽  
K. Vandermeeren ◽  
M. Verduyckt ◽  
...  
Keyword(s):  
Saccharomyces Cerevisiae ◽  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Molecular Mechanisms ◽  
Baker’S Yeast ◽  
Baker's Yeast ◽  
Pathogenic Role ◽  
The Past ◽  
Human Proteins

Over the past decade, the baker’s yeastSaccharomyces cerevisiaehas proven to be a useful model system to investigate fundamental questions concerning the pathogenic role of human proteins in neurodegenerative diseases such as Parkinson’s disease (PD). These so-called humanized yeast models for PD initially focused onα-synuclein, which plays a key role in the etiology of PD. Upon expression of this human protein in the baker’s yeastSaccharomyces cerevisiae, the events leading to aggregation and the molecular mechanisms that result in cellular toxicity are faithfully reproduced. More recently, a similar model to study the presumed pathobiology of theα-synuclein interaction partner synphilin-1 has been established. In this review we will discuss recent advances using these humanized yeast models, pointing to new roles for cell wall integrity signaling, Ca2+homeostasis, mitophagy, and the cytoskeleton.

scholarly journals Genetic Variants in SNCA and the Risk of Sporadic Parkinson’s Disease and Clinical Outcomes: A Review

2017 ◽  
Vol 2017 ◽  
pp. 1-11 ◽  
Author(s):  
Clarissa Loureiro das Chagas Campêlo ◽  
Regina Helena Silva
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Environmental Factors ◽  
Clinical Outcomes ◽  
Association Studies ◽  
Clinical Aspects ◽  
Genome Wide Association Studies ◽  
Snca Gene ◽  
Increased Risk

There is increasing evidence of the contribution of genetic susceptibility to the etiology of Parkinson’s disease (PD). Genetic variations in the SNCA gene are well established by linkage and genome-wide association studies. Positive associations of single nucleotide polymorphisms (SNPs) in SNCA and increased risk for PD were found. However, the role of SNCA variants in individual traits or phenotypes of PD is unknown. Here, we reviewed the current literature and identified 57 studies, performed in fourteen different countries, that investigated SNCA variants and susceptibility to PD. We discussed the findings based on environmental factors, history of PD, clinical outcomes, and ethnicity. In conclusion, SNPs within the SNCA gene can modify the susceptibility to PD, leading to increased or decreased risk. The risk associations of some SNPs varied among samples. Of notice, no studies in South American or African populations were found. There is little information about the effects of these variants on particular clinical aspects of PD, such as motor and nonmotor symptoms. Similarly, evidence of possible interactions between SNCA SNPs and environmental factors or disease progression is scarce. There is a need to expand the clinical applicability of these data as well as to investigate the role of SNCA SNPs in populations with different ethnic backgrounds.

scholarly journals Early-onset Parkinson's disease and depression

2007 ◽  
Vol 65 (1) ◽  
pp. 5-10 ◽  
Author(s):  
Délcio Bertucci Filho ◽  
Hélio A.G. Teive ◽  
Lineu C. Werneck
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Risk Factor ◽  
Parkinson Disease ◽  
Early Onset ◽  
Clinical Characteristics ◽  
Late Onset ◽  
Mild Depression ◽  
Moderate Depression ◽  
Early Onset Parkinson’S Disease

Patients with Parkinson’s disease (PD) in whom symptoms start before the age of 45 years (EOPD) present different clinical characteristics from those with the late-onset form of the disease. The incidence of depression is believed to be greater in patients with EOPD than with the late-onset form of the disease, although there is no risk factor or marker for depression in patients with PD. We studied 45 patients with EOPD to define the frequency of depression and to identify possible differences between the groups with and without depression. Depression was diagnosed in 16 (35.5%) of the patients, a higher incidence than in the population at large but similar to the figure for late-onset Parkinson disease; 8 (50%) of the patients had mild depression, 4 (25%) moderate depression and 4 (25%) were in remission. There was no relationship between depression and any of the clinical characteristics of the disease, although the EOPD patients with depression presented earlier levodopa-related complications and were more affected on the Hoehn-Yahr, UPDRS and Schwab-England scales.

scholarly journals The Role of the Western Diet and Oral Microbiota in Parkinson’s Disease

Nutrients ◽  
2022 ◽  
Vol 14 (2) ◽  
pp. 355
Author(s):  
Barbara Zapała ◽  
Tomasz Stefura ◽  
Tomasz Milewicz ◽  
Julia Wątor ◽  
Monika Piwowar ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Food Preferences ◽  
Amplicon Sequencing ◽  
Rrna Gene ◽  
Oral Microbiota ◽  
Healthy Controls ◽  
Increased Risk ◽  
Specific Food

The type of diet not only affects the composition of the oral microflora but is also one of the more critical factors associated with an increased risk of Parkinson’s disease, PD. This study compared diet preferences and oral microbiota profiles in patients with PD vs. healthy controls. This study compared the oral microbiota composition of 59 patients with PD and 108 healthy controls (without neurodegeneration) using 16S rRNA gene amplicon sequencing. According to results, oral microbiota in patients with PD is different compared from healthy controls. In particular, decreased abundance of Proteobacteria, Pastescibacteria, and Tenercutes was observed. The oral cavity of patients with PD was characterized by the high relative abundance of bacteria from the genera Prevotella, Streptococcus, and Lactobaccillus. There were also differences in food preferences between patients with PD and healthy controls, which revealed significantly higher intake of margarine, fish, red meat, cereals products, avocado, and olives in the patients with PD relative to healthy controls. Strong positive and negative correlations between specific food products and microbial taxa were identified.

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