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Mutational analysis of serotonin receptor genes: HTR3A and HTR3B in fibromyalgia patients

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Abstract

The neurotransmitter serotonin (5-hydroxytryptamine, 5-HT) has been implicated in numerous human disorders. Dysfunction of serotonergic neurotransmission is thought to play a major role in the pathophysiology of the fibromyalgia syndrome (FMS) which is characterised by non-restorative sleep and severe pain. In our study, both serotonin receptor subunit genes, HTR3A and HTR3B, have been investigated for sequence variations in FMS patients in order to reveal a possible involvement in the aetiology of FMS. We examined DNA samples from 48 patients with FMS representing sporadic cases by single-strand conformation polymorphism (SSCP) and denaturing high-performance liquid chromatography (dHPLC) analysis, sequenced samples with conspicuous patterns and performed statistical calculations. HTR3A mutational analysis revealed one novel as well as five known sequence variations. Investigating HTR3B, we detected seven formerly described mutations and one novel sequence variant. Statistical computation rated all variants as probably non-disease-related polymorphisms. Nevertheless, one might speculate about an effect of the respective sequence variants on the severity of the disease. Sequence variants of the serotonin receptor subunit genes HTR3A and HTR3B indicate no obvious significance in the aetiology of fibromyalgia, yet they represent the basis for future studies on their pharmacogenetic relevance.

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Acknowledgements

We thank Nadja Muncke, Rüdiger J. Blaschke and Stefan Kirsch for helpful discussions and the Deutsche Forschungsgemeinschaft for support.

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Authors and Affiliations

  1. Institute of Human Genetics, University of Heidelberg, Im Neuenheimer Feld 366, 69120, Heidelberg, Germany

    Bernd Frank, Beate Niesler, Christine Fischer & Gudrun Rappold

  2. Psychiatric Hospital, University of Munich, Nußbaumstraße 7, 80336, Munich, Germany

    Brigitta Bondy & Manfred Ackenheil

  3. Friedrich-Baur-Institute, University of Munich, Ziemssenstraße 1a, 80336, Munich, Germany

    Michael Späth & Dieter E. Pongratz

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  1. Bernd Frank
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  2. Beate Niesler
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  3. Brigitta Bondy
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  4. Michael Späth
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  5. Dieter E. Pongratz
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  6. Manfred Ackenheil
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  7. Christine Fischer
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  8. Gudrun Rappold
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Correspondence to Gudrun Rappold.

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Frank, B., Niesler, B., Bondy, B. et al. Mutational analysis of serotonin receptor genes: HTR3A and HTR3B in fibromyalgia patients. Clin Rheumatol 23, 338–344 (2004). https://doi.org/10.1007/s10067-004-0927-2

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  • DOI: https://doi.org/10.1007/s10067-004-0927-2

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