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- Title
Paraoxonase-1 192 enzyme polymorphism in non-syndromic clefting: In patients and parents.
- Authors
Turgut, Gürsel; Özcan, Arzu; Çakmak, Ercan; Bas, Lütfü; Tatlıdede, Soner; Öztürk, Oğuz; Ağaçhan, Bedia; Zeybek, Ümit; Ergen, Arzu
- Abstract
Most orofacial clefts are nonsyndromic, isolated defects, and are classified into two groups: cleft lip (CL) with or without cleft palate and cleft palate (CP) only. Both are genetically complex traits, the genetic cause is stil elusive, it is genetically complex and enviromental factors are also responsible for the pathogenesis. Epithelial transformation to mesenchyme is an important event during the process of palatogenesis. Specifically, epithelial-mesenchymal transformation is thought to be critical for the disappearance of the seam and mesenchymal confluence. In palate formation, apoptosis is thought to facilitate adherence, or touching, of the opposing epithelium to form a seam. Apoptosis is important to sculpt the organelles in the body during development. We hypothesize that oxidative stress promotes epithelial cell apoptosis during palate formation. Oxidative stress occurs when the production of reactive oxygen species (ROS), including free radicals, exceeds the handling capability of intracellular antioxidant enzymes and extracellular antioxidant defenses. Excessive oxidative stress leads to peroxidative damage to cells, altered cellular function, and pathologic effects. Paraoxonase (PON) is a serum enzyme that is associated with antioxidant mechanism. We aim to determine the prevalance of the PON-1 192 polymorphisms in the patients and control groups. All cases included in this study are from the medical records of the Plastic, Reconstructive and Esthetic Clinic of Sisli Etfal Research and Training Hospital from August 2004 to January 2006. 50 nonsyndromic CL and CP cases and parent were analyzed. Blood specimens were collected in tubes containing EDTA, and DNA was prepared from leucoycte pellet by SDS lysis ammonium acetate extraction and ethanol precipitation. PON-1 genotypes were determined following PCR according to previously published protocols. Paraoxonase activities was measured according to Furlong et al. (1989). We evaluated the frequencies of polymorphisms of the PON1-192 gene in nonsyndromic cleft lip and cleft palate patients and in matched control subjects.
- Subjects
OROFACIAL pain; CLEFT palate; CLEFT lip; LIP abnormalities; GENETIC disorders
- Publication
Journal of Cell & Molecular Biology, 2008, Vol 7, Issue 1, p67
- ISSN
1303-3646
- Publication type
Article