Autism Studies and Related Medical Conditions, January 2009 - TACA

positively correlated in the autistic subjects (r =.51; p =.005). CONCLUSIONS:
These results confirm that plasma NO is high in some children with autism and
suggest that this elevation may be related to IFN-gamma activity.
Torsdottir, G., S. Hreidarsson, et al. (2005). "Ceruloplasmin, superoxide dismutase and
copper in autistic patients." Basic Clin Pharmacol Toxicol 96(2): 146-8.
Trushina, E. and C. T. McMurray (2007). "Oxidative stress and mitochondrial
dysfunction in neurodegenerative diseases." Neuroscience 145(4): 1233-48.
In recent years, it has become increasingly clear that mitochondrial dysfunction
and oxidative damage are major contributors to neuronal loss. Free radicals,
typically generated from mitochondrial respiration, cause oxidative damage of
nucleic acids, lipids, carbohydrates and proteins. Despite enormous amount of
effort, however, the mechanism by which oxidative damage causes neuronal
death is not well understood. Emerging data from a number of
neurodegenerative diseases suggest that there may be common features of
toxicity that are related to oxidative damage. In this review, while focusing on
Huntington's disease (HD), we discuss similarities among HD, Friedreich ataxia
and xeroderma pigmentosum, which provide insight into shared mechanisms of
neuronal death.
Williams, T. A., A. E. Mars, et al. (2007). "Risk of autistic disorder in affected offspring
of mothers with a glutathione S-transferase P1 haplotype." Arch Pediatr Adolesc Med
161(4): 356-61.
OBJECTIVE: To test whether polymorphisms of the glutathione S-transferase P1
gene (GSTP1) act in the mother during pregnancy to contribute to the phenotype
of autistic disorder (AD) in her fetus. DESIGN: Transmission disequilibrium
testing (TDT) in case mothers and maternal grandparents. SETTING: Autistic
disorder may result from multiple genes and environmental factors acting during
pregnancy and afterward. Teratogenic alleles act in mothers during pregnancy to
contribute to neurodevelopmental disorders in their offspring; however, only a
handful have been identified. GSTP1 is a candidate susceptibility gene for AD
because of its tissue distribution and its role in oxidative stress, xenobiotic
metabolism, and JNK regulation. PARTICIPANTS: We genotyped GSTP1*G313A
and GSTP1*C341T polymorphisms in 137 members of 49 families with AD. All
probands received a clinical diagnosis of AD by Autism Diagnostic Interview-
Revised and Autism Diagnostic Observation Schedule-Generic testing. MAIN
OUTCOME MEASURES: Association of haplotypes with AD was tested by the
TDT-Phase program, using the expectation-maximization (EM) algorithm for
uncertain haplotypes and for incomplete parental genotypes, with standard
measures of statistical significance. RESULTS: The GSTP1*A haplotype was
overtransmitted to case mothers (P = .01 [P = .03 using permutation testing];
odds ratio, 2.67 [95% confidence interval, 1.39-5.13]). Results of the combined
haplotype and genotype analyses suggest that the GSTP1-313 genotype alone
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