  
Low maternal dopamine ß-hydroxylase activity a risk factor for autism in offspring
Last Updated: 2001-04-27 15:30:02 EDT (Reuters Health)
WESTPORT, CT (Reuters Health) - Canadian investigators say that genetically determined low maternal dopamine ß-hydroxylase (DßH) activity may play a role in the etiology of autism spectrum disorders in some cases.
Autism has a strong genetic basis and recent evidence that some families with autistic children have low levels of serum DßH, which helps convert dopamine to norepinephrine, Dr. Jeanette J. A. Holden, of Cytogenetics and DNA Research Laboratory, in Kingston, Ontario, and colleagues explain in the April 15th American Journal of Medical Genetics. This prompted them to look more closely at DßH genotypes in families with two or more children with autism spectrum disorders.
While no significant concordance for DBH alleles between affected siblings emerged, mothers with two or more affected children had a significantly higher frequency of the DBH 19-bp deletion allele compared with a matched control group of mothers.
"Although the odds ratios suggested only a moderate relevance for the DBH 19-bp deletion allele as a risk allele, the attributable risk was high (42%), indicating that this allele is an important factor in determining the risk for having a child with autism," the authors say.
The team also reports that women homozygous for the 19-bp deletion genotype had the lowest mean serum DBH enzyme activity of study participants.
"Taken together, these findings suggest that lowered maternal serum DßH activity results in a suboptimal uterine environment (decreased norepinephrine relative to dopamine), which, in conjunction with genotypic susceptibility of the fetus, results in autism spectrum disorder in some families," the researchers conclude.
Am J Med Genet 2001;100:30-36.
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