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.
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Acknowledgments
We would like to thank all patients for providing biological samples for this study. This study was supported by the Mater Children’s Hospital and the Mater Medical Research Institute.
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Bowling, F.G., Heussler, H.S., McWhinney, A. et al. Plasma and Urinary Sulfate Determination in a Cohort with Autism. Biochem Genet 51, 147–153 (2013). https://doi.org/10.1007/s10528-012-9550-0
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DOI: https://doi.org/10.1007/s10528-012-9550-0