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JCI online early table of contents: July 1, 2010
Date:7/1/2010

iew this article at: http://www.jci.org/articles/view/40658?key=a0e3462f9c84e525da8c


METABOLIC DISEASE: Disorder of fat absorption also affects the immune system

Abetalipoproteinemia is a rare genetic disorder caused by mutations in the gene responsible for generating the protein MTP. It is characterized by malabsorption of fats in the intestine and low levels of fat in the blood, as well as defects in liver, nerve cell, and eye function. Recently, MTP was shown to regulate the CD1 family of proteins that influence the immune system, but little is known about the function of the immune system in patients with abetalipoproteinemia. Now, a team of researchers, led by Richard Blumberg, at Brigham and Women's Hospital, Harvard Medical School, Boston, has determined that individuals with abetalipoproteinemia have immune defects. Specifically, defects in the numbers and function of immune cells known as iNKT cells, which become activated when they recognize microbial (and self) fat-containing molecules complexed with CD1 molecules. The authors therefore conclude that abetalipoproteinemia is not only a disorder that affects fat absorption, levels, and usage but also an immune disease involving CD1.

TITLE: Primary deficiency of microsomal triglyceride transfer protein in human abetalipoproteinemia is associated with loss of CD1 function

AUTHOR CONTACT:
Richard S. Blumberg
Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Phone: 617.732.6917; Fax: 617.264.5185; E-mail: rblumberg@partners.org.

View this article at: http://www.jci.org/articles/view/42703?key=42c843332541236b0321


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Contact: Karen Honey
press_releases@the-jci.org
734-546-5242
Journal of Clinical Investigation
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