TITLE: TGF-beta switches from tumor suppressor to prometastatic factor in a model of breast cancer progression
National Cancer Institute, Bethesda, Maryland, USA.
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Mutant gene accounts for some cases of congenital heart disease
Sick sinus syndrome (SSS) was first described in 1967 and is characterized by arrhythmia, palpitations, and fainting. Although frequently associated with heart disease and seen most often in the elderly, SSS may occur in the fetus, infant or child without apparent cause. In these cases, it is presumed to be congenital. D. Woodrow Benson and colleagues at Children's Hospital Medical Center in Cincinnati, Ohio, screened 10 pediatric SSS patients from 7 families for mutations in the alpha subunit of the cardiac sodium channel gene (SCN5A) a gene previously associated with cardiac rhythm disorders - and found that 5 individuals carrying mutations in this gene demonstrated a loss of sodium channel function, predicted to reduce excitability of the heart. This study reveals that congenital SSS, in some families, is a recessive disorder of the cardiac sodium channel.
TITLE: Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A)
D. Woodrow Benson
Children's Hospital Medical Center, Cincinnati, Ohio, USA.