Brunner - Genetic abnormality

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  • Brunner
    • Aim:
      • To explain the behaviour of a large family in the Netherlands where MALES are affected by a syndrome of borderline MENTAL RETARDATION and abnormal VIOLENT behaviour.
      • Behaviour shown included impulsive AGGRESSION, ARSON, ATTEMPTED **** and EXHIBITIONISM,
    • Participants:
      • 5 affected males from one family.
    • Methodology:
      • Data was collected of URINE SAMPLES over a 24 HOUR period.
    • Results:
      • Tests showed DISTURBED MONOAMINE METABOLISM associated with a DEFICIT of the enzyme MONOAMINE OXIDASE A (MAOA).
      • In each of the 5 males, a POINT MUTATION was identified in the X chromosome of the gene responsible for production of MAOA.
    • Conclusions:
      • MAOA is involved in SEROTONIN METABOLISM. The defect in the gene leading to IMPAIRED serotonin metabolism is likely to be responsible for the mental retardation/violent behaviour in the family.
      • MAOA deficiency was associated with a recognisable behavioural phenotype.
        • This accounted for inability to regulate their aggression.Not all males were affected.
          • Rare condition so cannot be generalised very far.


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