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A loss-of-function mutation in tryptophan hydroxylase 2 segregating with attention-deficit/hyperactivity disorder

Molecular Psychiatry volume 13, pages 365–367 (2008)Cite this article

In the central nervous system, tryptophan hydroxylase 2 (TPH2) catalyzes the rate limiting step in the biosynthesis of serotonin, a neurotransmitter involved in many aspects of brain function, including regulation of affect state, aggression and impulsivity. Variants in the TPH2 sequence have been associated with a spectrum of psychiatric diagnoses, such as obsessive compulsive disorder, affective disorders and attention-deficit/hyperactivity disorder (ADHD).1, 2, 3, 4, 5, 6

It has been proposed that naturally occurring variants of TPH2 with decreased enzyme activity could cause deficiency of serotonin production and an increased risk of developing affective disorders.3 However, all the TPH2 variants described so far are either situated in non-coding regions or are missense mutations with significant residual activity.2, 3, 7

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Authors and Affiliations

  1. Department of Biomedicine, University of Bergen, Bergen, Norway

    J McKinney, S Johansson, A Halmøy, I Winge & J Haavik

  2. Center of Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway

    J McKinney, S Johansson & P M Knappskog

  3. Division of Psychiatry, Haukeland University Hospital, Bergen, Norway

    M Dramsdahl & J Haavik

  4. Department of Clinical Medicine, University of Bergen, Bergen, Norway

    P M Knappskog

Authors
  1. J McKinney
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  2. S Johansson
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  3. A Halmøy
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  4. M Dramsdahl
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  5. I Winge
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  6. P M Knappskog
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  7. J Haavik
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Correspondence to J Haavik.

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McKinney, J., Johansson, S., Halmøy, A. et al. A loss-of-function mutation in tryptophan hydroxylase 2 segregating with attention-deficit/hyperactivity disorder. Mol Psychiatry 13, 365–367 (2008). https://doi.org/10.1038/sj.mp.4002152

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