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Exome sequencing of Familial Hypercholesterolemia patients: unique alterations in cholesterol related genes analysis
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Resumo(s)
Familial hypercholesterolemia (FH) results from defects in the hepatic uptake and degradation of LDL via the LDL-receptor pathway, common caused by a loss-of-function mutation in the LDLR receptor gene (LDLR), by mutations in the gene enconding apolipoprotein B (APOB) or rare dominant gain-of-function mutations in a member of the proprotein convertase family (PCSK9). However, mutations which encodes a protein required for clathrin-mediated internalization of the LDLR (LDLRAP1) by the liver, has also been described as a recessive form of FH. The presence of mutations in other genes (CYP7A1, enzyme that catalyses the first step in the hepatic catabolism of cholesterol, and SREBP-2, a transcription factor that binds to the sterol regulatory element) have been described, but these are very rare causes of hypercholesterolaemia.
In the Portuguese FH Study only 40% of clinical FH patients have an identifiable mutation in these genes so, other mutations in these genes or other gene defects must exist to explain the cause of hypercholesterolemia in the remaining families.
Next-generation high-throughput DNA sequencing techniques are opening fascinating opportunities in life sciences. The next-generation sequencing (NGS) technologies offer novel and rapid ways for genome-wide characterisation and profiling of mRNAs, small RNAs, transcription factor regions, structure of chromatin and DNA methylation
patterns,microbiology and metagenomics.
Descrição
Acknowledgements: Ana CatarinaAlves was funded by FCT SFRH / BD / 27990 / 2006 ; project grant FCT_PTDC/SAU-GMG/101874/2008
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Doenças Cardio e Cérebro-vasculares
Contexto Educativo
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Instituto Nacional de Saúde Doutor Ricardo Jorge, IP