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

Teive, Hélio Afonso Ghizoni; Raskin, Salmo; Iwamoto, Fábio M.; Germiniani, Francisco Manoel Branco; Baran, Maria Helena Herdoíza; Werneck, Lineü Cesar; Allan, Nasser; Quagliato, Elizabeth; Leroy, Elisabeth; Ide, Susan; Polymeropoulos, Mihael H.

doi:10.1590/s0004-282x2001000500013

Cited by 10 publications

(5 citation statements)

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“…Remarkably, further Brazilian studies found no SNCA-A53T mutation in PD patients 14,18,19 . Furthermore, other genes re1ated to PD, such as APOE, GSTs and LRRK2 (PARK8), also showed no difference between patients and controls in this population 20,21,22,23 .…”

Section: Discussionmentioning

confidence: 88%

“…However, these discrepancies seem to have little relevance, considering the absence of said mutation in both groups, which seems to be different in the Brazilian population 14,18,19 . Additionally, individuals remained in the control group, regardless of the matching pair analysis with patients, which enabled a larger number of individuals to perform comparative analysis.…”

Section: Discussionmentioning

confidence: 94%

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Alpha-synuclein A53T mutation is not frequent on a sample of Brazilian Parkinson’s disease patients

Longo

Pinhel

Gregório

et al. 2015

Arq. Neuro-Psiquiatr.

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Parkinson's disease (PD) is one of the major degenerative disorders, affecting 2% of the population over 65 years and up to 4% in people over 85 years 1 . In Brazil, statistics show that the incidence of PD amounts to 150/200 cases per 100,000 inhabitants 2 . Most cases of PD are idiopathic 3 . However, in approximately 5%-10% of the cases, there is a genetic component with both dominant and recessive inheritance patterns 3 . The chromosomal loci linked to the familial forms of PD are termed PARK1-13. These loci include six autosomal dominant genes [PARK 1or PARK 4 (alpha synuclein -SNCA), PARK 3 (Lewy bodies), PARK 5 (ubiquitin carboxyl-terminal esterase L1 -UCHL1), PARK 8 (leucine-rich repeat kinase 2 -LRRK2) and PARK13 (HTRA serine peptidase 2 -HTRA2)], 4 recessives genes [PARK 2 ABSTRACT Introduction:The pathogenesis of Parkinson's disease (PD) involves both genetic susceptibility and environmental factors, with focus on the mutation in the alpha-synuclein gene (SNCA). Objective: To analyse the polymorphism SNCA-A53T in patients with familial PD (FPD) and sporadic PD (SPD). Method: A total of 294 individuals were studied, regardless of sex and with mixed ethnicity. The study group with 154 patients with PD, and the control group included 140 individuals without PD. The genotyping of SNCA-A53T was performed by PCR/RFLP. Significance level was p < 0.05. Results: Among all patients, 37 (24%) had FPD and 117 (75.9%) had SPD. The absence of SNCA-A53T mutation was observed in all individuals. Conclusion: SPD is notably observed in patients. However, the SNCA-A53T mutation was absent in all individuals, which does not differ controls from patients. This fact should be confirmed in a Brazilian study case with a more numerous and older population. Keywords:Parkinson's disease, alpha-synuclein, mutation. RESUMO Introdução:A patogênese da doença de Parkinson (DP) envolve fatores ambientais e suscetibilidade genética, destacando-se a mutação de alfa-sinucleína (SNCA.) Objetivos: Analisar a variante genética SNCA-A53T em pacientes com DP familiar (DPF) e DP esporádica (DPE). Método: Foram estudados 294 indivíduos, independente de sexo, com etnia miscigenada, sendo 154 com DP e 140 sem a doença (grupo controle). A genotipagem de SNCA-A53T foi realizada por PCR/RFLP. Nível de significância para p < 0,05. Resultados: Entre os pacientes, 37(24%) tinham DPF e 117 (75,9%) DPE. A ausência da mutação SNCA-A53T em todos os indivíduos. Conclusão: DPE é destacada entre os pacientes, no entanto a mutação SNCA-A53T ausente em todos os indivíduos, não diferenciando os grupo controle e pacientes, o que deve ser confirmado em população brasileira, considerando uma ampla casuística, além da ancestralidade.Palavras-chave: doença de Parkinson, alfa sinucleína, mutação.

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Section: Discussionmentioning

confidence: 88%

Section: Discussionmentioning

confidence: 94%

Alpha-synuclein A53T mutation is not frequent on a sample of Brazilian Parkinson’s disease patients

Longo

Pinhel

Gregório

et al. 2015

Arq. Neuro-Psiquiatr.

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“…This review assessed 3014 studies, of which 73 met the inclusion criteria 20,35–106 . The process detailing the step‐by‐step inclusion and exclusion criteria is summarized in the PRISMA flow diagram 107 shown in Figure S2.…”

Section: Resultsmentioning

confidence: 99%

Frequency of Hereditary and GBA1‐Related Parkinsonism in Latin America: A Systematic Review and Meta‐Analysis

Saffie Awad,

Teixeira‐dos‐Santos,

Santos‐Lobato

et al. 2023

Movement Disorders

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BackgroundIdentifying hereditary parkinsonism is valuable for diagnosis, genetic counseling, patient prioritization in trials, and studying the disease for personalized therapies. However, most studies were conducted in Europeans, and limited data exist on admixed populations like those from Latin America.ObjectivesThis study aims to assess the frequency and distribution of genetic parkinsonism in Latin America.MethodsWe conducted a systematic review and meta‐analysis of the frequency of parkinsonian syndromes associated with genetic pathogenic variants in Latin America. We defined hereditary parkinsonism as those caused by the genes outlined by the MDS Nomenclature of Genetic Movement Disorders and heterozygous carriers of GBA1 pathogenic variants. A systematic search was conducted in PubMed, Web of Science, Embase, and LILACS in August 2022. Researchers reviewed titles and abstracts, and disagreements were resolved by a third researcher. After this screening, five researchers reanalyzed the selection criteria and extracted information based on the full paper. The frequency for each parkinsonism‐related gene was determined by the presence of pathogenic/likely pathogenic variants among screened patients. Cochran's Q and I2 tests were used to quantify heterogeneity. Meta‐regression, publication bias tests, and sensitivity analysis regarding study quality were also used for LRRK2‐, PRKN‐, and GBA1‐related papers.ResultsWe included 73 studies involving 3014 screened studies from 16 countries. Among 7668 Latin American patients, pathogenic variants were found in 19 different genes. The frequency of the pathogenic variants in LRRK2 was 1.38% (95% confidence interval [CI]: 0.52–2.57), PRKN was 1.16% (95% CI: 0.08–3.05), and GBA1 was 4.17% (95% CI: 2.57–6.08). For all meta‐analysis, heterogeneity was high and publication bias tests were negative, except for PRKN, which was contradictory. Information on the number of pathogenic variants in the other genes is further presented in the text.ConclusionsThis study provides insights into hereditary and GBA1‐related parkinsonism in Latin America. Lower GBA1 frequencies compared to European/North American cohorts may result from limited access to gene sequencing. Further research is vital for regional prevalence understanding, enabling personalized care and therapies. © 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

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“…No Brasil Teive et al publicaram um estudo com análise de 10 pacientes com DP pertencentes a famílias que tinham dois ou mais pacientes afetados, sem encontrar a presença da mutação G209A do gene da alfa-sinucleína 52 .…”

Section: -Fatores Genéticosunclassified

Etiopatogenia da Doença de Parkinson

Teive

2019

Rev Neurocienc

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Pesquisas recentes têm demonstrado que a Doença de Parkinson (DP) deve ser considerada como uma enfermidade neurodegenerativa, progressiva, caracterizada pela presença de disfunção monoaminérgica múltipla, incluindo o déficit de sistemas dopaminérgicos, colinérgicos, serotoninérgicos e noradrenérgicos. Outros sinais da DP são os chamados não-motores (como os distúrbios do sono, a disfunção cognitiva, a depressão) e podem estar relacionados com o acometimento de diferentes áreas do tronco cerebral de diferentes regiões do cérebro. Nesse estudo, o autor faz uma revisão atual sobre a etiopatogenia da doença de Parkinson, enfatizando as hipóteses genética e ambiental.

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

Cited by 10 publications

References 20 publications

Alpha-synuclein A53T mutation is not frequent on a sample of Brazilian Parkinson’s disease patients

Alpha-synuclein A53T mutation is not frequent on a sample of Brazilian Parkinson’s disease patients

Frequency of Hereditary and GBA1‐Related Parkinsonism in Latin America: A Systematic Review and Meta‐Analysis

Etiopatogenia da Doença de Parkinson

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