Abnormal behavior associated with a point mutation in the structural gene for monoamine oxidase A.
Article Details
- CitationCopy to clipboard
Brunner HG, Nelen M, Breakefield XO, Ropers HH, van Oost BA
Abnormal behavior associated with a point mutation in the structural gene for monoamine oxidase A.
Science. 1993 Oct 22;262(5133):578-80.
- PubMed ID
- 8211186 [ View in PubMed]
- Abstract
Genetic and metabolic studies have been done on a large kindred in which several males are affected by a syndrome of borderline mental retardation and abnormal behavior. The types of behavior that occurred include impulsive aggression, arson, attempted rape, and exhibitionism. Analysis of 24-hour urine samples indicated markedly disturbed monoamine metabolism. This syndrome was associated with a complete and selective deficiency of enzymatic activity of monoamine oxidase A (MAOA). In each of five affected males, a point mutation was identified in the eighth exon of the MAOA structural gene, which changes a glutamine to a termination codon. Thus, isolated complete MAOA deficiency in this family is associated with a recognizable behavioral phenotype that includes disturbed regulation of impulsive aggression.