Monoamine oxidase deficiency in males with an X chromosome deletion

Sims, Katherine B.; Chapelle, Albert de la; Norio, Reijo; Em, Sankila; Hsu, Yun-Pung P.; Rinehart, William B.; Corey, Timothy; Ozelius, L. J.; Powell, John; Bruns, G.; Gusella, James F.; Murphy, Dennis L.; Breakefield, Xandra O.

doi:10.1016/0896-6273(89)90231-6

Cited by 96 publications

(59 citation statements)

References 64 publications

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“…Hence, it is surprising that in the resting, restrained state MAO A KO mice compared to wild-type mice demonstrate a low to normal basal blood pressure and heart rate. These findings are consistent with anecdotal reports of altered peripheral autonomic function and resting hypotension in patients with Norrie disease, an X-linked recessive disorder which may encompass deletions in the gene for MAO-A [57,77]. It is possible in the face of the markedly enhanced levels of pressor amines that adaptational responses may be elicited in MAO A KO mice, which act to maintain a lowered blood pressure and heart rate.…”

Section: Physiological Changessupporting

confidence: 78%

Biochemical, behavioral, physiologic, and neurodevelopmental changes in mice deficient in monoamine oxidase A or B

Holschneider

Chen²,

Seif

et al. 2001

Brain Research Bulletin

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The availability of mutant mice that lack either MAO A or MAO B has created unique profiles in the central and peripheral availability of serotonin, norepinephrine, dopamine, and phenylethylamine. This paper summarizes some of the current known phenotypic findings in MAO A knock-out mice and contrast these with those of MAO B knock-out mice. Differences are discussed in relation to the biochemical, behavioral, and physiologic changes investigated to date, as well as the role played by redundancy mechanisms, adaptational responses, and alterations in neurodevelopment.

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Section: Physiological Changessupporting

confidence: 78%

Biochemical, behavioral, physiologic, and neurodevelopmental changes in mice deficient in monoamine oxidase A or B

Holschneider

Chen²,

Seif

et al. 2001

Brain Research Bulletin

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“…The gene for Norrie's disease has been localized to the proximal short arm of the X-chromo some with close linkage to the region containing genes for MAO-A and MAO-B (Gal et al 1986;Donnai et al 1988). Some atypical Norrie's disease patients have been shown to have a deletion of this region, and there is a functional and structural absence of MAO-A and MAO-B (Sims et al 1989) with the expected neurochem ical changes .…”

Section: Discussionmentioning

confidence: 99%

Effects of Gestational Exposure to Monoamine Oxidase Inhibitors in Rats: Preliminary Behavioral and Neurochemical Studies

Whitaker‐Azmitia

Zhang

Clarke

1994

Neuropsychopharmacol

103

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Monoamine neurotransmitters are important in the development of the immature mammalian brain, prior to assuming their role as neurotransmitters. The endogenous levels of these transmitters are highly regulated by the enzyme monoamine oxidase (MAO). Thus, any change in this enzyme should have a profound effect on brain development. In order to test this hypothesis, we treated developing rat pups with the monoamine oxidase inhibitors (MAO-Is), dorgyline (MAO-A, 3 mg/kg), and deprenyl (MAO-B, 3 mg/kg) throughout gestation (MAO-I-birth), or throughout gestation and to sacrifice (MAO-I-sac). The animals were analyzed for serotonin and dopamine terminal density, using 3H-paroxetine and 3H-GBR 12935, respectively. Whereas there were no changes in the development of the dopamine system, the serotonin system was severely KEYWORDS: Serotonin; Monoamine oxidase; Monoamine oxidase inhibitors; Deprenyl; Clorgyline; Neurodevelopment; Impulsivity; Hyperactivity; Norrie's disease. affected, particularly in the cortex that showed a significant reduction of innervation at 30 days postnatal. The animals reached all normal development milestones on schedule, and had no changes in measures of anxiety (% light/dark); however, the animals showed increased open field activity and deficits in a passive avoidance paradigm, which may be a measure of impulsivity. The MAO-I-sac animals were severely impaired, showing stereotypic behavior, seizures, and eventually visual impairments. Our results are discussed in terms of relevance to human disease states, such as atypical Norrie's disease, impulsivity, and hyperactivity. As well, our results should be used to caution against the use of MAO-Is in women of child-bearing age.

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“…Norrie disease, which is caused by X-chromosomal microdeletions including the MAOA gene, is associated with mental retardation, autistic behavior, motor hyperactivity, and sleep disturbances, which may, at least in part, be attributed to deficient MAO activity (Sims et al, 1989;Murphy et al, 1990). A hemizygous chain termination mutation in exon 8 of MAOA, resulting in an absence of MAOA enzymatic activity in cultured fibroblasts, causes mild mental retardation and episodes of impulsive aggression, arson, and hypersexual behavior, such as attempted rape and exhibitionism, in affected males from a single extended pedigree (Brunner et al, 1993).…”

Section: Introductionmentioning

confidence: 99%

Cluster B Personality Disorders are Associated with Allelic Variation of Monoamine Oxidase A Activity

Jacob

Müller

Schmidt

et al. 2005

Neuropsychopharmacol

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Genetic variants of the monoamine oxidase A (MAOA) have been associated with aggression-, anxiety-, and addiction-related behavior in several nonclinical and clinical populations. Here, we investigated the influence of allelic variation of MAOA activity on aggressionrelated personality traits and disease risk in patients with personality disorders. Personality disorders were diagnosed with the Structured Clinical Interview of DSM-IV and were allocated to cluster A, B, and C. Personality features were assessed by the revised NEO Personality Inventory and the Tridimensional Personality Questionnaire. The genotype of the MAOA gene-linked polymorphic region (MAOA-LPR) was determined in 566 patients with personality disorders and in 281 healthy controls. MAOA genotype was significantly associated with cluster B personality disorders (w 2 ¼ 7.77, p ¼ 0.005, df ¼ 1) but not with cluster C personality disorders. In total, 26.0% of cluster B patients were hemi-or homozygous for the low-activity variant of the MAOA genotype, compared to 16.4% in the control group. Associations between MAOA variants and personality domains related to impulsivity and aggressiveness were inconsistent. Our findings further support the notion that allelic variation of MAOA activity contributes modestly to the balance of hyper-(impulsiveaggressive) and hyporeactive (anxious-depressive) traits.

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Monoamine oxidase deficiency in males with an X chromosome deletion

Cited by 96 publications

References 64 publications

Biochemical, behavioral, physiologic, and neurodevelopmental changes in mice deficient in monoamine oxidase A or B

Biochemical, behavioral, physiologic, and neurodevelopmental changes in mice deficient in monoamine oxidase A or B

Effects of Gestational Exposure to Monoamine Oxidase Inhibitors in Rats: Preliminary Behavioral and Neurochemical Studies

Cluster B Personality Disorders are Associated with Allelic Variation of Monoamine Oxidase A Activity

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