Affiliations: Department of Pediatrics, Obstetrics and Reproductive
Medicine, University of Siena, Siena, Italy
Note: [] Corresponding author: Giuseppe Buonocore, Department of
Pediatrics, Obstetrics and Reproductive Medicine, University of Siena, Viale
Mario Bracci 36, 53100 Siena, Italy. Tel.: +39 0577 586 523; Fax: +39 0577 586
143; E-mail: giuseppe.buonocore@unisi.it
Abstract: Oxidative stress (OS) is involved in several human diseases,
including obesity, diabetes, atherosclerosis, carcinogenesis, as well as
genetic diseases. We previously found that OS occurs in Down Syndrome as well
as in Beckwith-Wiedemann Syndrome (BWS). Here we describe the clinical case of
a female patient with Prader Willi Syndrome (PWS), a genomic imprinting
disorder, characterized by obesity, atherosclerosis and diabetes mellitus type
2, pathologies in which a continuous and important production of free radicals
takes place. We verified the presence of OS by measuring a redox biomarkers
profile including total hydroperoxides (TH), non protein-bound iron (NPBI),
thiols (SH), advanced oxidation protein products (AOPP) and isoprostanes (IPs). Thus
we introduced in therapy an antioxidant agent, namely potassium ascorbate with
ribose (PAR), in addition to GH therapy and we monitored the redox biomarkers
profile for four years. A progressive decrease in OS biomarkers occurred until
their normalization. In the meantime a weight loss was observed together with a
steady growth in standards for age and sex.
