Reversing the effect of the IDUA GENE W402X mutation?

• Author(s): Ribeiro, Diogo ; Amaral, Olga
• Date: 2012
• Persistent ID: http://hdl.handle.net/10400.18/1185
• Origin: Repositório Científico do Instituto Nacional de Saúde
• Subject(s): Doenças Genéticas; Genética Humana
• Document Type: Conference Object
• Language: English

Description

Presenting author: Diogo Ribeiro; Corresponding author: Olga Amaral Introduction: Mucopolysaccharidosis type I (MPS I; OMIM #252800) is an autosomal recessive disorder, which results from the defective activity of the lysosomal enzyme α-L-iduronidase (IDUA, EC 3.2.1.76). The gene encoding α-L-iduronidase (IDUA; OMIM #252800) maps to chromosome 4p16.3 and contains 14 exons. The W402X mutation is the most common in patients of European Caucasian origin, appearing in over 45% of alleles in unrelated patients of various western European origins. In addition, this mutation has been considered to play an important role in terms of the pathophysiology of MPS I. The main objective of this work was to functionally evaluate the susceptibility of the nonsense mutation W402X of the IDUA gene to mechanisms of nonsense suppression with two individual compounds.