TY - JOUR TT - INVESTIGATING OF THE EFFECT OF GENE POLYMORPHISMS AND TOXICOLOGICAL PARAMETERS IN MYELOMENINGOCELE AU - Kahiloğulları, Gokmen AU - Kayaaltı, Zeliha AU - Kaya-akyüzlü, Dilek AU - Eroğlu, Umit AU - Kılınc, Mustafa Cemil AU - Özdemir, Fezile AU - Söylemezoğlu, Tülin PY - 2017 DA - February JF - The Turkish Journal Of Occupational / Environmental Medicine and Safety JO - turjoem PB - Engin TUTKUN WT - DergiPark SN - 2149-4711 SP - 304 EP - 304 VL - Volume 2 IS - İssue 1 (1) KW - INVESTIGATING OF THE EFFECT OF GENE POLYMORPHISMS AND TOXICOLOGICAL PARAMETERS IN MYELOMENINGOCELE N2 - Neural tubedefects are malformations which is the result of faulty closure of the neuraltube embryonic development 3rd-4th weeks. In myelomeningocele cases, protectivemembranes around the spinal cord are ejected through an opening in the spine.Neural tube defects are thought to be formed multifactorial event with geneticand environmental factors such as metals, oxidative stress, DNA damage,reduction of folic acid levels and genetic polymorphisms. It has not beenstudied yet. The aim of this study is to determined association betweenmyelomeningocele and these parameters. For this reasons, in Ankara UniversityIbn-i Sina Hospital Brain and Neurological Surgery Department, the pockettissue and venous blood of babies who are diagnosed with myelomeningocele haveno function during and after surgery and their mothers’ blood will be used fromboth sexes (n = 100). Also, 100 blood samples taken from healthy mother andtheir healthy birth babies will be used as the control group.Firstly, thegene polymorphisms in encoded various enzymes and proteins which play role inmetals’ toxicokinetics and related with myelomeningocele formation willdeterminate. Then, the effect of heavy metals to myelomeningocele formationwill investigate in the second part of the study. Thirdly, the definition ofthe effect of oxidative stress and measurement of enzymes activities will do.At last part, the mitochondrial DNA (mtDNA) damage caused by oxidative stresswhich is raised by reactive oxygen species will determine.Metal concentrationswill be measured in collected myelomeningocele and control samples. The bloodsamples will be used to determine genetic polymorphisms, measuring the mtDNAdamage and to define oxidative stress parameters.As a result, theinvestigation of effect of metals and genetic polymorphisms in myelomeningocelewill contribute intrauterine diagnosis and finding new specific drugs that canprevent the development meningomyelocele. CR - Gokmen KAHİLOĞULLARI, Zeliha KAYAALTI, Dilek KAYA-AKYÜZLÜ, Umit EROĞLU, Mustafa Cemil KILINC, Fezile ÖZDEMİR, Tülin SÖYLEMEZOĞLU CR - Department of Neurosurgery, Ankara University, Ankara, Turkey Institute of Forensic Sciences, Ankara University, Ankara, Turkey UR - https://dergipark.org.tr/tr/pub/turjoem/issue//315653 L1 - https://dergipark.org.tr/tr/download/article-file/306201 ER -