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JCI online early table of contents: Dec. 1, 2010
Date:12/1/2010

the kidney. Many also show mental retardation. A team of researchers, led by John Rasko, at Centenary Institute, Australia, has now identified two specific mutations in the SLC1A1 gene as causing dicarboxylic aminoaciduria in humans. Further analysis indicated that the mutations abrogated the ability of SLC1A1 protein to transport glutamate in the human kidney. The authors therefore suggest that impaired uptake of protein building blocks via SLC1A1 in nerve cells likely accounts for the impaired neurological capabilities of individuals with dicarboxylic aminoaciduria accompanied by mental retardation.

TITLE: Loss-of-function mutations in the glutamate transporter SLC1A1 cause human dicarboxylic aminoaciduria

AUTHOR CONTACT:
John E.J. Rasko
Royal Prince Alfred Hospital and Centenary Institute, Camperdown, New South Wales, Australia.
Phone: 61.2.95656156; Fax: 61.2.95656101; E-mail: j.rasko@centenary.org.au.

View this article at: http://www.jci.org/articles/view/44474?key=636a5628ff73d3d46ff0


AUTOIMMUNITY: A new view of type 1 diabetes

Individuals develop type 1 diabetes when their immune system attacks and destroys cells in their pancreas that produce the hormone insulin. A major obstacle to advances in understanding, preventing, and curing type 1 diabetes has been the inability to "see" the disease initiate, progress, or regress, especially during the very early phases of the disease. However, Diane Mathis, Ralph Weissleder, and colleagues, at Harvard Medical School, Boston, have now developed a way to noninvasively image pancreatic islets (the regions of the pancreas that house the cells that produce insulin) and defined certain events that allowed them to distinguish patients recently diagnosed with diabetes from healthy individuals. They hope that their approach can
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Journal of Clinical Investigation
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