DNA Damage and Neutrophil Elastase in Children with Prader-Willi Syndrome
Moushira Erfan Zaki1*, Eman Youness2, Mohamed Gadelhak3, Marwa Shehab4, Safinaz El-Toukhy2, Doaa Soliman5, Walaa Yousef1 and Hala El-Bassyouni31Biological Anthropology Department, Medical Research Division, Giza, Egypt
2Medical Biochemistry Department, Medical Research Division, National Research Centre, Giza, Egypt
3Clinical Genetics Department, National Research Centre, Cairo, Egypt
4Cytogenetic Department, National Research Centre, Cairo, Egypt
5Department of Pediatrics, Faculty of Medicine, Benha, Egypt
Corresponding Autjor E-mail: moushiraz@yahoo.com
Abstract: Obesity is the most common cause of metabolic problems in Prader-Willi syndrome (PWS). Obesity has been joined to a low grade pro-inflammatory state, in which impairments in the oxidative stress and antioxidant mechanism could be involved. The aim of the work is to investigate the level of DNA damage and inflammatory marker neutrophil elastase in PWS patients. The study included 21 children with PWS detected by fluorescence in situ hybridization (FISH) method and 20 age and sex healthy matched obese controls. Their mean age was 6 ± 2.24 years. Leukocyte DNA damage was evaluated by comet assay and neutrophil elastase was assessed by ELISA. All patients presented with distinctive faces, hypotonia, obesity, short stature and various other criteria. FISH revealed deletion 15q11–13 in all PWS patients. The mean of DNA damage frequency was significantly higher in PWS than controls. The body fat%, body mass index (BMI) z score were elevated in PWS cases. Moreover, the neutrophil elastase was significantly higher in patients compared to controls. The present study highlights the existence of oxidative stress and inflammation in Prader Willi syndrome that may have a role in the management and treatment of these patients.
Keywords: Comet Assay Prader Willi syndrome; DNA damage; Neutrophil Elastase; BMI Back to TOC