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JCI online early table of contents: Sept. 13, 2010
Date:9/13/2010

tp://www.jci.org/articles/view/41531?key=07331a5bc3d8a1998c3f">http://www.jci.org/articles/view/41531?key=07331a5bc3d8a1998c3f


DEVELOPMENT Lack of cell movement links 4 developmental disorders

Kallmann syndrome is a developmental disorder characterized by hypogonadotropic hypogonadism (absence or defective function of the testes or ovaries) and a defective sense of smell as a result of an absence of olfactory bulbs, a condition known as arrhinencephaly. It has been suggested that hypogonadism is caused by failed embryonic migration of neurons producing gonadotropin-releasing hormone 1 (GnRH1) from the nasal epithelium to the forebrain. Now, Jean-Pierre Hardelin and colleagues, at the Pasteur Institute, France, have determined that failed embryonic migration of GnRH1-producing neurons is a common feature of several developmental disorders that include arrhinencephaly, specifically X-linked Kallmann syndrome, CHARGE syndrome, Patau syndrome (trisomy 13), and Edwards syndrome (trisomy 18).

Analysis of fetuses with these disorders indicated that there were few or no GnRH1-producing neurons in regions of the brain known as the preoptic and hypothalamic regions in arrhinencephalic fetuses, whereas large numbers of these cells were present in control fetuses. Instead, these cells accumulated in the fronto-nasal region of the brain, which is the first step of the GnRH neuronal migratory path. As interrupted olfactory nerve fibers were also detected in this region, the authors conclude that the failed migration of GnRH1-producing neurons observed in all four arrhinencephalic disorders studied occurs as a result of a primary embryonic failure of peripheral olfactory structures.

TITLE:

Defective migration of neuroendocrine GnRH cells in human arrhinencephalic conditions

AUTHOR CONTACT:
Jean-Pierre Hardelin,
Institut Pasteur, Paris, France.
Phone: 33.1.45.68.88.91; Fax: 33.1.40.61.34.
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Contact: Karen Honey
press_releases@the-jci.org
734-546-5242
Journal of Clinical Investigation
Source:Eurekalert

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