Doaa Refaey Soliman Ebraheem
Asst. Professor
DNA Damage and Neutrophil Elastase in Children with Prader-Willi Syndrome
Biomedical & Pharmacology Journal • 2019
Publication Information
Authors
Moushira Erfan Zaki1
*, Eman Youness2
, Mohamed Gadelhak3
,
Marwa Shehab4
, Safinaz El-Toukhy2
, Doaa Soliman5
,
Walaa Yousef1
and Hala El-Bassyouni3
Keywords
Comet Assay Prader Willi syndrome; DNA damage; Neutrophil Elastase; BMI.
Journal
Biomedical & Pharmacology Journal
Publisher
Not Available
Volume
12
Issue
Not Available
Pages
1967-1974
publication.type
International
Paper Link
Not Available
Supplementary Materials
Not Available
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.
(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.