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A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

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Published on: June 15, 2011

Adenosine deaminase alleles and autistic disorder: case-control and family-based association studies.

A M Persico¹, R Militerni, C Bravaccio

¹Laboratory of Neuroscience, Department of Physiology and Neuroscience, Libera Universitá Campus Bio-Medico, Rome, Italy.

American Journal of Medical Genetics

|December 20, 2000

Summary

The ADA2 allele, linked to lower enzyme activity, was more common in autistic patients. However, family studies did not confirm a genetic link, suggesting further research is needed to understand adenosine deaminase

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Area of Science:

Genetics and Neurodevelopmental Disorders
Biochemistry and Enzyme Function

Background:

Adenosine deaminase (ADA) is crucial for purine metabolism and immune function.
ADA gene variations, specifically ADA1 and ADA2 alleles, influence enzyme activity.
Previous studies suggested a potential link between ADA2 alleles and autism spectrum disorder (ASD).

Purpose of the Study:

To replicate findings on ADA2 allele frequency in autistic patients.
To investigate genetic linkage and association using family-based designs.
To characterize ADA2 carriers through serotonin levels, peptiduria, and head circumference.

Main Methods:

Case-control study comparing ADA2 allele frequencies in 91 autistic patients and 152 controls.
Family-based association tests using 91 singleton families and 44 Caucasian-American trios.
Biochemical and anthropometric characterization of ADA2-carrying individuals.

Main Results:

ADA2 alleles were significantly more frequent in autistic patients (17.6%) than controls (7.9%).
Family-based tests did not support significant linkage or association between ADA2 and ASD.
A trend towards preferential maternal transmission of ADA2 alleles was observed.

Conclusions:

While ADA2 alleles are more frequent in autistic individuals, direct genetic linkage was not established.
Preferential maternal transmission warrants further investigation for potential imprinting effects.
Future studies should directly assess ADA enzyme activity in relation to genotype and ASD.