Data/hora: 10/06/2024 03:37:33

Provedor de dados: | 56
País: | Brazil
Título: | ß-Spectrin São PauloII, a novel frameshift mutation of the ß-spectrin gene associated with hereditary spherocytosis and instability of the mutant mRNA
Autores: | Bassères,D.S.; Tavares,A.C.; Costa,F.F.; Saad,S.T.O.
Data: | 2002-08-01
Ano: | 2002
Palavras-chave: | SS-Spectrin; Red cell membrane; Spherocytosis; Acanthocytes; Mutation.
Resumo: | Hereditary spherocytosis (HS) is a common inherited anemia characterized by the presence of spherocytic red cells. Defects in several membrane protein genes have been involved in the pathogenesis of HS. ß-Spectrin-related HS seems to be common. We report here a new mutation in the ß-spectrin gene coding region in a patient with hereditary spherocytosis. The patient presented acanthocytosis and spectrin deficiency and, at the DNA level, a novel frameshift mutation leading to HS, i.e., a C deletion at codon 1392 (ß-spectrin São PauloII), exon 20. The mRNA encoding ß-spectrin São PauloII was very unstable and the mutant protein was not detected in the membrane or in other cellular compartments. It is interesting to note that frameshift mutations of the ß-spectrin gene at the 3' end allow the insertion of the mutant protein in the red cell membrane, leading to a defect in the auto-association of the spectrin dimers and consequent elliptocytosis. On the other hand, ß-spectrin São PauloII protein was absent in the red cell membrane, leading to spectrin deficiency, HS and the presence of acanthocytes.
Tipo: | Info:eu-repo/semantics/other
Idioma: | Inglês
Identificador: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2002000800009
Editor: | Associação Brasileira de Divulgação Científica
Relação: | 10.1590/S0100-879X2002000800009
Formato: | text/html
Fonte: | Brazilian Journal of Medical and Biological Research  v.35 n.8 2002
Fonte: | info:eu-repo/semantics/openAccess