Plasma and urinary sulfate determination in a cohort with autism

Bowling, Francis G., Heussler, Helen S., McWhinney, Avis and Dawson, Paul A. (2013) Plasma and urinary sulfate determination in a cohort with autism. Biochemical Genetics, 51 1-2: 147-153. doi:10.1007/s10528-012-9550-0

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Author Bowling, Francis G.
Heussler, Helen S.
McWhinney, Avis
Dawson, Paul A.
Title Plasma and urinary sulfate determination in a cohort with autism
Journal name Biochemical Genetics   Check publisher's open access policy
ISSN 0006-2928
1573-4927
Publication date 2013-02
Sub-type Article (original research)
DOI 10.1007/s10528-012-9550-0
Open Access Status
Volume 51
Issue 1-2
Start page 147
End page 153
Total pages 7
Place of publication New York, NY, United States
Publisher Springer New York
Collection year 2014
Language eng
Formatted abstract
Sulfate is important for mammalian development but is not routinely measured in clinical settings. The renal NaS1 sulfate transporter maintains circulating sulfate levels and is linked to renal sulfate wasting in mice. Some autistic individuals exhibit renal sulfate wasting, but the etiology is yet unknown. We measured plasma and urinary sulfate levels, calculated the fractional excretion index (FEI) of sulfate, and screened for two loss-of-function NaS1 sequence variants (R12X and N174S) in 23 autistic individuals. The FEI sulfate values ranged from 0.13 to 0.50. NaS1 variants were detected in 18 of the 23 individuals (11 heterozygous N174S, four homozygous N174S, two heterozygous R12X, and one individual carried both R12X and N174S). Those individuals with neither sequence variant had FEI sulfate ≤ 0.34, whereas FEI sulfate ≥ 0.35 was found in about 60 % (11 of 18) of individuals that had R12X and/or N174S. This study links renal sulfate wasting with loss-of-function NaS1 sequence variants in humans.
Keyword Sulfate
Renal sulfate wasting
Sulfate transporter
Transcriptional regulation
NaSi-1 gene
NaS1
Mice
Children
Mouse
Transporters
Sat-1
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: Official 2014 Collection
School of Medicine Publications
 
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