Navegando por Autor "ALVES, Erik Artur Cortinhas"

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Acesso aberto (Open Access)
GBA mutations p.N370S and p.L444P are associated with Parkinson's disease in patients from Northern Brazil
(Universidade Federal do Pará, 2019) AMARAL, Carlos Eduardo de Melo; LOPES, Patrick Farias; FERREIRA, Juliana Cristina Cardoso; ALVES, Erik Artur Cortinhas; MONTENEGRO, Marcella Vieira Barroso; COSTA, Edmar Tavares da; YAMADA, Elizabeth Sumi; CAVALCANTE, Fernando Otávio Quaresma; SILVA, Luiz Carlos Santana da
Mutations of the GBA gene have been reported in patients with Parkinson's disease (PD) from a number of different countries, including Brazil. In order to confirm this pattern in a sample of PD patients from northern Brazil, we conducted a case-control study of the occurrence of the two most common mutations of the GBA gene (c.1226A>G; p.N370S and c.1448T>C; p.L444P) in a group of 81 PD patients and 81 control individuals, using PCR-RFLP, confirmed by the direct sequencing of the PCR products. In the patient group, three patients (3.7%) were heterozygous for the GBA c.1226A>G; p.N370S mutation, and three (3.7%) for GBA c.1448T>C; p.L444P Neither mutation was detected in the control group (p =0.0284). Patients with the c.1448T>C; p.L444P mutation showed a tendency to have an earlier disease onset, but a larger sample number is required to confirm this observation. Our results suggest an association between the GBA c.1226A>G; p.N370S and c.1448T>C; p.L444P mutations and the development of PD in the population of patients from the Northern Brazil.
Acesso aberto (Open Access)
Mucopolysaccharidoses in northern Brazil: targeted mutation screening and urinary glycosaminoglycan excretion in patients undergoing enzyme replacement therapy
(2011) VIANA, Gustavo Monteiro; LIMA, Nathalia Oliveira de; CAVALEIRO, Rosely Maria dos Santos; ALVES, Erik Artur Cortinhas; SOUZA, Isabel Cristina Neves de; FEIO, Raimunda Helena; LEISTNER-SEGAL, Sandra; SCHWARTZ, Ida Vanessa Doederlein; GIUGLIANI, Roberto; SILVA, Luiz Carlos Santana da
Mucopolysaccharidoses (MPS) are rare lysosomal disorders caused by the deficiency of specific lysosomal enzymes responsible for glycosaminoglycan (GAG) degradation. Enzyme Replacement Therapy (ERT) has been shown to reduce accumulation and urinary excretion of GAG, and to improve some of the patients' clinical signs. We studied biochemical and molecular characteristics of nine MPS patients (two MPS I, four MPS II and three MPS VI) undergoing ERT in northern Brazil. The responsiveness of ERT was evaluated through urinary GAG excretion measurements. Patients were screened for eight common MPS mutations, using PCR, restriction enzyme tests and direct sequencing. Two MPS I patients had the previously reported mutation p.P533R. In the MPS II patients, mutation analysis identified the mutation p.R468W, and in the MPS VI patients, polymorphisms p.V358M and p.V376M were also found. After 48 weeks of ERT, biochemical analysis showed a significantly decreased total urinary GAG excretion in patients with MPS I (p < 0.01) and MPS VI (p < 0.01). Our findings demonstrate the effect of ERT on urinary GAG excretion and suggest the adoption of a screening strategy for genotyping MPS patients living far from the main reference centers.