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Screen for MAOA mutations in target human groups.
D E Schuback1, E L Mulligan, K B Sims
1Department of Neurology, Massachusetts General Hospital, and Harvard Medical School, Boston, USA.
American Journal of Medical Genetics
|March 2, 1999
Summary
Monoamine oxidase A (MAO-A) deficiency is not common in humans. Researchers found no evidence of MAO-A gene mutations in males with mental retardation or sexual deviancy.
Area of Science:
- Genetics
- Neuroscience
- Behavioral Science
Background:
- Previous studies identified MAO-A deficiency linked to impulse control issues and abnormal amine levels.
- This deficiency was attributed to mutations in the MAOA gene, specifically a premature stop codon.
Purpose of the Study:
- To investigate the prevalence of MAOA gene disruption in males with mental retardation and/or sexually deviant behavior.
- To determine if MAOA deficiency is a common cause of these conditions.
Main Methods:
- Evaluated 398 males, including those with mental retardation, sexual disorders, and control groups.
- Measured plasma levels of 3-methoxy, 4-hydroxyphenolglycol (MHPG) as an indicator of MAO-A activity.
- Screened the MAOA gene for variations using single-strand conformational polymorphism (SSCP) analysis and sequencing.
Main Results:
- No evidence of mutations disrupting the MAOA gene was found in any of the studied populations.
- Abnormal amine metabolite levels, suggestive of MAO-A deficiency, were not linked to MAOA gene mutations in this cohort.
Conclusions:
- MAOA deficiency states, as described previously, appear to be uncommon in the human population.
- The study suggests that MAOA gene mutations are not a frequent cause of mental retardation or sexually deviant behavior.