Defective MAOA causes BRUNS

Stable Identifier
R-HSA-5579012
Type
Pathway
Species
Homo sapiens
Synonyms
Defective MAOA causes Brunner syndrome (BRUNS)
ReviewStatus
5/5
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Defective MAOA causes BRUNS
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Amine oxidase (flavin-containing) A (MAOA) catalyses the oxidative deamination of biogenic and dietary amines, the regulation of which is critical for mental state homeostasis. MAOA, located on the mitochondrial outer membrane and requiring FAD as cofactor (Weyler 1989), preferentially oxidises biogenic amines such as 5-hydroxytryptamine (5HT), dopamine, noradrenaline and adrenaline. Defects in MAOA can cause Brunner syndrome (BRUNS; MIM:300615), a form of X-linked non-dysmorphic mild mental retardation. Male patients are affected by mild mental retardation and exhibit abnormal behaviour, including impulsive aggression (Brunner et al. 1993, Shih et al. 1999, Shih 2004).
Literature References
PubMed ID Title Journal Year
14697877 Cloning, after cloning, knock-out mice, and physiological functions of MAO A and B

Shih, JC

Neurotoxicology 2004
10389141 Role of MAO A and B in neurotransmitter metabolism and behavior

Shih, JC, Ridd, MJ, Chen, K

Pol J Pharmacol 1999
8211186 Abnormal behavior associated with a point mutation in the structural gene for monoamine oxidase A

Brunner, HG, Nelen, M, Ropers, HH, van Oost, BA, Breakefield, XO

Science 1993
Participants
Events
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as an event of
Disease
Name Identifier Synonyms
disease of mental health DOID:150
Authored
Jassal, B  (2014-06-06)
Reviewed
Nakaki, T  (2014-11-03)
Created
Jassal, B  (2014-06-06)
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