Mucopolysaccharidoses in northern Brazil: Targeted mutation screening and urinary glycosaminoglycan excretion in patients undergoing enzyme replacement therapy
Genet. mol. biol
; 34(3): 410-415, 2011. graf, tab
Article
em En
| LILACS
| ID: lil-595980
Biblioteca responsável:
BR1.1
ABSTRACT
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.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
LILACS
Assunto principal:
Mucopolissacaridoses
/
Terapia de Reposição de Enzimas
/
Glicosaminoglicanos
/
Mutação
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
/
Screening_studies
País/Região como assunto:
America do sul
/
Brasil
Idioma:
En
Revista:
Genet. mol. biol
Assunto da revista:
GENETICA
Ano de publicação:
2011
Tipo de documento:
Article
País de afiliação:
Brasil