In silico versus in vitro analysis of LDLR mutations

• Autor(es): Alves, A.C. ; Silva, S. ; Patel, D. ; Malhó, R. ; Soutar, A.K. ; Bourbon, M.
• Data: 2012
• Identificador Persistente: http://hdl.handle.net/10400.18/897
• Origem: Repositório Científico do Instituto Nacional de Saúde
• Assunto(s): Doenças Cardio e Cérebro-vasculares
• Tipo de Documento: Documento de conferência
• Idioma: Inglês

Descrição

The LDL receptor (LDLR) is a glycoprotein that mediates binding and internalization of cholesterol-rich lipoproteins from plasma. Mutations in the LDLR gene are the major cause of familial hypercholesterolaemia (FH), which results in impaired catabolism of circulating LDL. This common autosomal inherited metabolism disorder leads to premature atherosclerosis and increased risk of CHD. Many different mutations (currently more than 1300) have been identified in FH patients, but not all give rise to a defective LDLR.