scholarly journals Analysis on the Susceptibility Genes in Two Chinese Pedigrees with Familial Parkinson's Disease

2010 ◽  
Vol 2010 ◽  
pp. 1-4
Author(s):  
Changshui Xu ◽  
Jun Xu ◽  
Yanmin Zhang ◽  
Jianjun Ma ◽  
Hideshi Kawakami ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Susceptibility Genes ◽  
Alpha Synuclein ◽  
Missense Mutations ◽  
Chain Reaction ◽  
Disease Protein ◽  
Polymerase Chain ◽  
Familial Parkinson’S Disease ◽  
Exon 10

Objective. To screen the susceptibility genes in Chinese pedigrees with early-onset familial Parkinson's disease (FPD).Methods. Fifty-one genomic DNA samples extracted from two Chinese pedigrees with FPD, the alpha-synuclein genes (SNCA), the leucine-rich repeat kinase 2(LRRK2), PINK1(PTEN-induced putative kinase 1), PARK7(Protein DJ1), PARK2(Parkinson juvenile disease protein 2), the glucocerebrosidase (GBA), and ATP(Ezrin-binding protein PACE-1), were sequenced by the use of polymerase chain reaction (PCR) technique. The gene dose of SNCA was checked.Results. There were only two missense mutations observed, respectively, at exon 5 of LRRK2 and exon 10 of PARK2, and both were enrolled in SNPs.Conclusion. No meaningful mutations could be detected, and other susceptibility genes should be detected in FDP patients in China.

scholarly journals The G209A mutation in the alpha-synuclein gene in Brazilian families with Parkinson's disease

2001 ◽  
Vol 59 (3B) ◽  
pp. 722-724 ◽  
Author(s):  
Hélio A.G. Teive ◽  
Salmo Raskin ◽  
Fábio M. Iwamoto ◽  
Francisco M.B. Germiniani ◽  
Maria H.H. Baran ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Polymerase Chain Reaction ◽  
Parkinson's Disease ◽  
Family History ◽  
Restriction Enzyme ◽  
Alpha Synuclein ◽  
Chain Reaction ◽  
The Mean ◽  
Polymerase Chain ◽  
Mutation Assay

A missense G209A mutation of the alpha-synuclein gene was recently described in a large Contursi kindred with Parkinson's disease (PD). The objective of this study is to determine if the mutation G209A of the alpha-synuclein gene was present in 10 Brazilian families with PD. PD patients were recruited from movement disorders clinics of Brazil. A family history with two or more affected in relatives was the inclusion criterion for this study. The alpha-synuclein G209A mutation assay was made using polymerase chain reaction and the restriction enzyme Tsp45I. Ten patients from 10 unrelated families were studied. The mean age of PD onset was 42.7 years old. We did not find the G209A mutation in our 10 families with PD. Our results suggest that alpha-synuclein mutation G209A is uncommon in Brazilian PD families.

scholarly journals Alpha-synuclein stepwise aggregation reveals features of an early onset mutation in Parkinson’s disease

2019 ◽  
Vol 2 (1) ◽  
Author(s):  
Guilherme A. P. de Oliveira ◽  
Jerson L. Silva
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Early Onset ◽  
Point Mutations ◽  
Alpha Synuclein ◽  
Amyloid Formation ◽  
Wild Type ◽  
Cryo Electron Microscopy ◽  
Familial Parkinson’S Disease ◽  
Direct Detector

Abstract Amyloid formation is a process involving interconverting protein species and results in toxic oligomers and fibrils. Aggregated alpha-synuclein (αS) participates in neurodegenerative maladies, but a closer understanding of the early αS polymerization stages and polymorphism of heritable αS variants is sparse still. Here, we distinguished αS oligomer and protofibril interconversions in Thioflavin T polymerization reactions. The results support a hypothesis reconciling the nucleation-polymerization and nucleation-conversion-polymerization models to explain the dissimilar behaviors of wild-type and the A53T mutant. Cryo-electron microscopy with a direct detector shows the polymorphic nature of αS fibrils formed by heritable A30P, E46K, and A53T point mutations. By showing that A53T rapidly nucleates competent species, continuously elongates fibrils in the presence of increasing amounts of seeds, and overcomes wild-type surface requirements for growth, our findings place A53T with features that may explain the early onset of familial Parkinson’s disease cases bearing this mutation.

scholarly journals Studying the effect of alpha-synuclein and Parkinson’s disease linked mutants on inter pathway connectivities

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Sagnik Sen ◽  
Ashmita Dey ◽  
Ujjwal Maulik
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Sequence Space ◽  
Late Onset ◽  
Structural Information ◽  
Semantic Networks ◽  
Alpha Synuclein ◽  
Functional Adaptation ◽  
Missense Mutations ◽  
Structural Variability

AbstractParkinson’s disease is a common neurodegenerative disease. The differential expression of alpha-synuclein within Lewy Bodies leads to this disease. Some missense mutations of alpha-synuclein may resultant in functional aberrations. In this study, our objective is to verify the functional adaptation due to early and late-onset mutation which can trigger or control the rate of alpha-synuclein aggregation. In this regard, we have proposed a computational model to study the difference and similarities among the Wild type alpha-synuclein and mutants i.e., A30P, A53T, G51D, E46K, and H50Q. Evolutionary sequence space analysis is also performed in this experiment. Subsequently, a comparative study has been performed between structural information and sequence space outcomes. The study shows the structural variability among the selected subtypes. This information assists inter pathway modeling due to mutational aberrations. Based on the structural variability, we have identified the protein–protein interaction partners for each protein that helps to increase the robustness of the inter-pathway connectivity. Finally, few pathways have been identified from 12 semantic networks based on their association with mitochondrial dysfunction and dopaminergic pathways.

Homozygous alpha-synuclein a53v in familial parkinson's disease

2017 ◽  
Vol 381 ◽  
pp. 161
Author(s):  
K. Nishioka ◽  
M. Hirano ◽  
A.J. Stoessl ◽  
H. Yoshino ◽  
Y. Imamichi ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Alpha Synuclein ◽  
Familial Parkinson’S Disease

Homozygous alpha-synuclein p.A53V in familial Parkinson's disease

2017 ◽  
Vol 57 ◽  
pp. 248.e7-248.e12 ◽  
Author(s):  
Hiroyo Yoshino ◽  
Makito Hirano ◽  
A. Jon Stoessl ◽  
Yoko Imamichi ◽  
Aya Ikeda ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Alpha Synuclein ◽  
Familial Parkinson’S Disease
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