Molecular characterization of loss-of-function mutations in PCSK9 and identification of a compound heterozygote

Article Abstract:

The effect of loss-of-function mutations on the synthesis and secretion of proprotein convertase subtilisin/kexin type 9 (PCSK9) was examined. It predicted that circulating levels of PCSK9 was lower in individuals with loss-of-function mutations and serine protease is present in the circulation and identified the first known compound heterozygote with two inactivating mutations in PCSK9.

Serine, Heterozygosis, Heterozygote, Clinical report

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Effect of mutation type and location on clinical outcome in 1,013 probands with marfan syndrome or related phenotypes and FBN1 mutations: an international study

Article Abstract:

The correlation between the fibrillin-1 genotype and the nature and severity of the clinical phenotype is studied. It is concluded that the correlation found between different mutation types and clinical manifestations might indicate different underlying pathophysiologic mechanism, both genetic and functional.

Physiology, Pathological, Pathological physiology, Fibrin, Marfan syndrome

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Mutations of presenilin genes in dilated cardiomyopathy and heart failure

Article Abstract:

The roles of presenilins mutations on dilated cardiomyopathy (DCM) and heart failure are examined. The results have shown that presenilin 1 (PSEN1) and presenilin 2 (PSEN2) mutations are associated with DCM and heart failure and have implicated novel implications of myocardial disease.

Alzheimer's disease, Cardiomyopathy, Dilated, Congestive cardiomyopathy, Report

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