Dwarfism Research Today is a free monthly online journal that collates and summarizes the latest research about Dwarfism, including details on genetics, diet, mental and motor development.

Congenital hypothyroidism (cretinism) in neuroD2-deficient mice.

Lin CH, Tapscott SJ, Olson JM

Clinical Research, Fred Hutchinson Cancer Research Center, Mailstop D4-100, 1100 Fairview Ave. N., Seattle, WA 98109, USA.

Mice lacking neuroD2, a basic helix-loop-helix transcription factor involved in brain development, show growth retardation and other abnormalities consistent with hypothalamic-pituitary-thyroid (HPT) axis dysfunction. neuroD2 is expressed in the paraventricular hypothalamic nuclei, the anterior lobe of pituitary, and the thyroid gland. In neuroD2-deficient mice, thyrotropin-releasing hormone, thyroid-stimulating hormone, and thyroid hormone are decreased in these three regions, respectively. neuroD2-null mice typically die 2 to 3 weeks after birth, but those treated with replacement doses of thyroxine survived more than 8 weeks. These data indicate that neuroD2 is expressed throughout the HPT axis and that all levels of the axis are functionally affected by its absence in mice.

Published 17 May 2006 in Mol Cell Biol, 26(11): 4311-5.
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