Autism Studies and Related Medical Conditions, January 2009 - TACA

we found similar levels of plasma CEP (124.5 ± 57.9 versus 110.4 ± 30.3
pmol/mL), iso[4]LGE2 protein adducts (16.7 ± 5.8 versus 13.4 ± 3.4 nmol/mL),
anti-CEP (1.2 ± 0.7 versus 1.2 ± 0.3) and anti-iso[4]LGE2 autoantibody titre (1.3
± 1.6 versus 1.0 ± 0.9), and no differences between the ratio of NO2Tyr/Tyr
(7.81 E-06 ± 3.29 E-06 versus 7.87 E-06 ± 1.62 E-06). These findings provide
the first direct evidence of increased oxidative stress in the autistic brain. It
seems likely that oxidative injury of proteins in the brain would be associated
with neurological abnormalities and provide a cellular basis at the root of autism
spectrum disorders.
Gargus, J. J. and F. Imtiaz (2008). "Mitochondrial energy-deficient endophenotype in
autism." American Journal of Biochemistry and Biotechnology 4(2): 198-207.
While evidence points to a multigenic etiology of most autism, the
pathophysiology of the disorder has yet to be defined and the underlying genes
and biochemical pathways they subserve remain unknown. Autism is considered
to be influenced by a combination of various genetic, environmental and
immunological factors; more recently, evidence has suggested that increased
vulnerability to oxidative stress may be involved in the etiology of this
multifactorial disorder. Furthermore, recent studies have pointed to a subset of
autism associated with the biochemical endophenotype of mitochondrial energy
deficiency, identified as a subtle impairment in fat and carbohydrate oxidation.
This phenotype is similar, but more subtle than those seen in classic
mitochondrial defects. In some cases the beginnings of the genetic
underpinnings of these mitochondrial defects are emerging, such as mild
mitochondrial dysfunction and secondary carnitine deficiency observed in the
subset of autistic patients with an inverted duplication of chromosome 15q11-
q13. In addition, rare cases of familial autism associated with sudden infant
death syndrome (SIDS) or associated with abnormalities in cellular calcium
homeostasis, such as malignant hyperthermia or cardiac arrhythmia, are
beginning to emerge. Such special cases suggest that the pathophysiology of
autism may comprise pathways that are directly or indirectly involved in
mitochondrial energy production and to further probe this connection three new
avenues seem worthy of exploration: 1) metabolomic clinical studies provoking
controlled aerobic exercise stress to expand the biochemical phenotype, 2) highthroughput
expression arrays to directly survey activity of the genes underlying
these biochemical pathways and 3) model systems, either based upon neuronal
stem cells or model genetic organisms, to discover novel genetic and
environmental inputs into these pathways.
Jackson, M. J. and P. J. Garrod (1978). "Plasma zinc, copper, and amino acid levels in
the blood of autistic children." J Autism Child Schizophr 8(2): 203-8.
Plasma zinc, copper, and amino acid levels have been measured in a group of
autistic children. All three variables were found to be normal. These findings are
in disagreement with the previously reported results of some other workers but if
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