BUFFALO, N.Y. -- On her laptop computer one recent afternoon,
University at Buffalo researcher Charmion Cruickshank calls up a
mass spectrometry readout showing the breakdown of chemicals in the
urine of a child with autism.
She has similar information for nine other children -- four with
the disorder and five without -- and she has spent the past few
years sifting through this puzzle of data for autism's chemical
The goal of the research, led by UB chemist Troy Wood, is to
pinpoint an array of molecular compounds that appear in distinct
amounts in the urine of children with autism. If the team is
successful, a biological test for diagnosing the disorder -- so far
elusive -- could be within reach.
Such a test would provide clinicians with a more objective way
of identifying autism, which is currently diagnosed by observing
"We're trying to understand, at the molecular level, how autism
is occurring and manifesting itself," said Wood, an associate
professor of chemistry. "A biological test for autism could assist
with early diagnosis, which is critical because if you can identify
children with autism early in life, the outcome is going to be
Pilot studies in Wood's laboratory have uncovered what may be a
number of distinctive chemical traits in the urine of children with
For example, compounds that appeared at depleted levels include
the reduced form of glutathione -- a finding that Cruickshank, a UB
PhD graduate, outlined in the dissertation she defended this May.
Levels of stercobilin, another substance, also seemed abnormally
Deficiencies of both of these compounds are an indicator of
oxidative stress, which some researchers believe plays a role in
autism, Wood said.
To verify these preliminary results, which have not been
published in a journal, Wood is hoping to complete a larger,
validation study. Such a study would analyze 75 to 100 urine
samples from children with autism, and an equal number of urine
samples from children in a control group.
Besides stercobilin and reduced glutathione, Wood and his team
have also identified a handful of other compounds in the urine that
may be correlated with autism. He noted that for a biological test
to be reliable, scientists will need to identify not just one or
two compounds that are biomarkers for autism, but several.
Cruickshank, now a postdoctoral researcher at National Jewish
Health in Denver, Colo., and Zachary Fine, a former UB student who
helped process urine samples in Wood's lab, said they hoped their
work would eventually lead, one day, to real benefits for children
with autism. Both researchers have friends who either had the
disorder themselves or had family members with autism.
"The hope is to be able to eliminate some of the subjectiveness
in diagnosing autism, and to get a better understanding of what's
actually causing it," said Fine, who graduated in May with a
bachelor of science in chemistry and is now a quality assurance
analyst at Johnson & Johnson. "They're saying that more
children have autism today than before, but it's not clear if
that's because they're understanding the disease better, or if
people are just diagnosing it more."
The research in Wood's laboratory on autism biomarkers is
conducted, in part, with a Fourier transform ion cyclotron
resonance mass spectrometer that was purchased in 2011 using a
National Institutes of Health stimulus grant.