Disrupted dopaminergic neurotransmission in 22q11 deletion syndrome.

Full Abstract

22q11 Deletion syndrome (22q11DS) is associated with chromosome 22q11 microdeletions and high rates of psychiatric disorders. Susceptibility for these disorders could be explained by haploinsufficiency of the catechol-O-methyltransferase gene, which encodes an enzyme involved in dopamine (DA) breakdown. It is unknown how dopaminergic neurotransmission is affected in people with 22q11DS. To date, there have been no controlled studies investigating dopaminergic neurotransmission in people with 22q11DS. We report the results of a challenge study in high-functioning adults with 22q11DS and age- and gender-matched controls using neuro-endocrine and peripheral dopaminergic markers. At baseline, 22q11DS subjects compared to controls had higher urine DA levels and lower plasma levels of the predominant DA metabolite homovanillic acid (HVA). Following DA depletion, 22q11DS subjects showed lower urine and plasma HVA levels and a lower prolactin response than controls. The ratio of DA/HVA, a rough index of DA turnover, was significantly higher in the 22q11DS subjects at baseline and after DA depletion. Our results suggest that adults with 22q11DS have disrupted dopaminergic neurotransmission, which might explain their susceptibility for psychiatric disorders.

Author information

Author/s: Boot, Erik (E); Booij, Jan (J); Zinkstok, Janneke (J); Abeling, Nico (N); de Haan, Lieuwe (L); Baas, Frank (F); Linszen, Don (D); van Amelsvoort, Thérèse (T);

Affiliation: Department of Psychiatry, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands. h.j.boot(-atsign-)amc.uva.nl

Journal and publication information

Publication Type: Journal Article

Journal: Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology (Neuropsychopharmacology), published in United States. (Language: eng)

Reference: 2008-May; vol 33 (issue 6) : pp 1252-8

Dates: Created 2008/04/14; Completed 2008/08/07;

PMID: 17653112, status: MEDLINE (last retrieved date: 2/18/2009)

Sourced from the National Library of Medicine. Abstract text and other information may be subject to copyright.

External Links for this article
(including full text providers, if available):

Click Electronic Full-text Provider Links to see options for finding the electronic full text links to this article. Note there may be a subscription or fee required for access to the full text. See our FAQ for information on finding FREE full text articles.

This article may also be located in paper journal collections available in many libraries. Use the Journal and Publication Information above to find the full article.

MeSH headings (categories)

This article was linked to the MeSH Headings (categories) shown below.

Female
Genotype
Homovanillic Acid - blood
Humans
Male
Mental Disorders - blood; genetics; physiopathology
Methionine - genetics
Methoxyhydroxyphenylglycol - metabolism
Neuropsychological Tests
Prolactin - blood
Synaptic Transmission - genetics

Note: Bold headings indicate primary MeSH headings or qualifiers.

Associated Chemicals: Amphetamine (300-62-9) ; Homovanillic Acid (306-08-1) ; Dopamine (51-61-6) ; Methoxyhydroxyphenylglycol (534-82-7) ; Methionine (63-68-3) ; Prolactin (9002-62-4) ; Catechol O-Methyltransferase (EC 2.1.1.6)

These are the most related articles currently in our database: