JCI Table of Contents, 1 October, 2003

rcinogenesis and for the design of new approaches to the prevention and treatment of breast cancer.

TITLE: TGF-beta switches from tumor suppressor to prometastatic factor in a model of breast cancer progression

Lalage Wakefield
National Cancer Institute, Bethesda, Maryland, USA.
Phone: 301-496-8351
Fax: 301-496-8395
Email: wakefiel@dce41.nci.nih.gov

View the PDF of this article at: https://www.the-jci.org/press/18899.pdf

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.
Phone: 513-636-7716
Fax: 513-636-5958
Email: woody.benson@cchmc.org

View the PDF of this article at:

Contact: Brooke Grindlinger
Journal of Clinical Investigation

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