Abnormal behavior associated with a point mutation in the structural gene for monoamine oxidase A

Journal Article · Fri Oct 22 00:00:00 EDT 1993 · Science (Washington, D.C.); (United States)

DOI:https://doi.org/10.1126/science.8211186· OSTI ID:5215834

Brunner, H G ^[1]; Nelen, M; Ropers, H H; van Oost, B A ^[2]

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1. Univ. Hospital, Nijmegan (Netherlands)
2. Univ. Hospital Nijmegen (Netherlands)

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.

• OSTI ID: 5215834
• Journal Information: Science (Washington, D.C.); (United States), Vol. 262:5133; ISSN 0036-8075
• Country of Publication: United States
• Language: English

Related Subjects

59 BASIC BIOLOGICAL SCIENCES
AMINE OXIDASES
GENE MUTATIONS
MALES
BEHAVIOR
GENETIC MAPPING
HUMAN POPULATIONS
HUMAN X CHROMOSOME
CHROMOSOMES
ENZYMES
HETEROCHROMOSOMES
HUMAN CHROMOSOMES
MAPPING
MUTATIONS
ORGANIC COMPOUNDS
OXIDOREDUCTASES
POPULATIONS
PROTEINS
X CHROMOSOME
550400* - Genetics
550900 - Pathology