JCI table of contents, 15 October, 2003

es dysregulation of calcium and phosphate levels. Harald Jppner and colleagues from Massachusetts General Hospital, Boston, have previously shown that PHP-Ib is genetically linked to a region on chromosome 20q13.3 that includes the gene GNAS. All previous studies of PHP-Ib cases have described a loss of methylation at the maternal GNAS exon A/B, suggesting that PHP-Ib is caused by a mutation or mutations in an element of GNAS that controls exon A/B methylation. Through further genetic analysis of a number of unrelated affected individuals and gene carriers, Jppner and colleagues have now identified a small microdeletion upstream of GNAS exon A/B that results in a loss of exon A/B methylation and propose that it is this genetic defect that underlies renal PTH resistance in PHP-Ib.

TITLE: Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS

Harald Jppner
Massachusetts General Hospital, Boston, Massachusetts, USA.
Phone: (617) 726-3966
Fax: (617) 726-7543
E-mail: jueppner@helix.mgh.harvard.edu

View the PDF of this article at: https://www.the-jci.org/press/19159.pdf

T cell activation throws lupus for a loop

Lupus is an autoimmune disease where an individual produces antibodies against their own body tissues. In a mouse model of lupus, treatment with alpha-galactosylceramide (alphaGalCer), a ligand of natural killer T cells, has been shown to ameliorate disease by changing the immune response from pathogenic (Th1-type) to nonpathogenic (Th2-type). In contrast, Defu Zheng and colleagues from Stanford University School of Medicine and the La Jolla Institute of Allergy and Immunology in California found that in an alternative mouse mode

Contact: Brooke Grindlinger
Journal of Clinical Investigation

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