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A Murine Model for Human Sepiapterin-Reductase Deficiency

  March, 15 2006 9:59
your information resource in human molecular genetics
In a research publication authored by Seungkyoung Yang, Young Jae Lee, et al., and published in American Journal of Human Genetics (78:575-587, 2006), it is reported that mice deficient in the Sepiapterin reductase gene (Spr-/-) display disturbed pterin profiles and greatly diminished levels of dopamine, norepinephrine, and serotonin, indicating that SPR is essential for homeostasis of tetrahydrobiopterin (BH4) and for the normal functions of BH4-dependent enzymes. The Spr-/- mice exhibit phenylketonuria, dwarfism, and impaired body movement. Oral supplementation of BH4 and neurotransmitter precursors completely rescued dwarfism and phenylalanine metabolism.

Author Contact:

S. Paul Oh
Department of Physiology and Functional Genomics, University of Florida College of Medicine, Gainesville, Florida, USA.

Abstract available online.

(C) 2006 by The American Society of Human Genetics.

Posted by: Tressie Dalaya

Message posted by: Trevor M. D'Souza

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