Brunner - Genetic abnormality
- Created by: Steff06
- Created on: 28-04-16 10:38
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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.
- This accounted for inability to regulate their aggression.Not all males were affected.
- Aim:
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