INVESTIGATING OF THE EFFECT OF GENE POLYMORPHISMS AND TOXICOLOGICAL PARAMETERS IN MYELOMENINGOCELE

Yıl 2017, Cilt: Volume 2 Sayı: İssue 1 (1) - 2.İnternational Congress Of Forensic Toxicology, 304 - 304, 16.02.2017

Gokmen Kahiloğulları Zeliha Kayaaltı Dilek Kaya-akyüzlü Umit Eroğlu Mustafa Cemil Kılınc Fezile Özdemir Tülin Söylemezoğlu

Öz

Neural tube
defects are malformations which is the result of faulty closure of the neural
tube embryonic development 3rd-4th weeks. In myelomeningocele cases, protective
membranes around the spinal cord are ejected through an opening in the spine.
Neural tube defects are thought to be formed multifactorial event with genetic
and environmental factors such as metals, oxidative stress, DNA damage,
reduction of folic acid levels and genetic polymorphisms. It has not been
studied yet. The aim of this study is to determined association between
myelomeningocele and these parameters. For this reasons, in Ankara University
Ibn-i Sina Hospital Brain and Neurological Surgery Department, the pocket
tissue and venous blood of babies who are diagnosed with myelomeningocele have
no function during and after surgery and their mothers’ blood will be used from
both sexes (n = 100). Also, 100 blood samples taken from healthy mother and
their healthy birth babies will be used as the control group.

Firstly, the
gene polymorphisms in encoded various enzymes and proteins which play role in
metals’ toxicokinetics and related with myelomeningocele formation will
determinate. Then, the effect of heavy metals to myelomeningocele formation
will investigate in the second part of the study. Thirdly, the definition of
the effect of oxidative stress and measurement of enzymes activities will do.
At last part, the mitochondrial DNA (mtDNA) damage caused by oxidative stress
which is raised by reactive oxygen species will determine.

Metal concentrations
will be measured in collected myelomeningocele and control samples. The blood
samples will be used to determine genetic polymorphisms, measuring the mtDNA
damage and to define oxidative stress parameters.

As a result, the
investigation of effect of metals and genetic polymorphisms in myelomeningocele
will contribute intrauterine diagnosis and finding new specific drugs that can
prevent the development meningomyelocele.

Anahtar Kelimeler

INVESTIGATING OF THE EFFECT OF GENE POLYMORPHISMS AND TOXICOLOGICAL PARAMETERS IN MYELOMENINGOCELE

Kaynakça

• Gokmen KAHİLOĞULLARI, Zeliha KAYAALTI, Dilek KAYA-AKYÜZLÜ, Umit EROĞLU, Mustafa Cemil KILINC, Fezile ÖZDEMİR, Tülin SÖYLEMEZOĞLU
• Department of Neurosurgery, Ankara University, Ankara, Turkey Institute of Forensic Sciences, Ankara University, Ankara, Turkey