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JCI online early table of contents: Jan. 2, 2008
Date:1/2/2008

utation in the equivalent gene (Phex) are known as Hyp-mice and have similar symptoms to individuals with XLH. PHEX/Phex is expressed not just in bone cells of the osteoblast lineage and there are conflicting reports as to whether defects in cells other than osteoblast lineage cells are involved in the disease that manifests in individuals with XLH and Hyp-mice. However, new data generated by Marc Drezner and colleagues at the University of Wisconsin, Madison, has indicated that mutation of Phex only in osteoblast lineage cells recapitulates the disease observed in Hyp-mice. Indeed, in the study, mice in which all cells had a Phex mutation and mice in which only the osteoblast lineage cells known as osteoblasts and osteocytes had a Phex mutation developed disease that mimicked that observed in Hyp-mice.

TITLE: Aberrant Phex function in osteoblasts and osteocytes alone underlies murine X-linked hypophosphatemia

AUTHOR CONTACT:
Marc K. Drezner
University of Wisconsin, Madison, Wisconsin, USA.
Phone: (608) 262-9288; Fax: (608) 263-9983; E-mail: mkd@medicine.wisc.edu.

View the PDF of this article at: https://www.the-jci.org/article.php?id=32702


NEUROBIOLOGY

Breaking down the potential molecular mechanisms underlying Parkinson disease

New data generated in vitro and in cultured cell lines and mouse neurons, by Ana Maria Cuervo and colleagues at the Albert Einstein College of Medicine, New York, has shed light on the mechanisms by which the protein alpha-synuclein is degraded in brain cells known as neurons. This has implications for the development of the neurodegenerative disorder Parkinson disease (PD) because altered degradation of alpha-synuclein has been implicated as a key step in the development of the disorder.

In the study, posttranslational modification of a
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Contact: Karen Honey
press_releases@the-jci.org
215-573-1850
Journal of Clinical Investigation
Source:Eurekalert

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