Detoxification gene polymorphisms and susceptibility to sporadic motor neuron disease in the Russian population. Shadrina, M., Slominsky, P., Zherebtsova, A., Levitsky, G., Levitskaya, N., Alekhin, A., Semenova, E., Serdyuk, A., Skvortsova, V., & Limborska, S. Balkan Journal of Medical Genetics, 9(1-2):31-41, 2006. cited By 0![Detoxification gene polymorphisms and susceptibility to sporadic motor neuron disease in the Russian population [link]](https://bibbase.org/img/filetypes/link.svg "link")
Paper abstract bibtex Motor neuron disease (MND) results in selective degeneration of motor neurons of the cerebral cortex, brain stem and spinal cord. It is a complex disease in the pathogenesis of which many genetic systems may be involved. A significant etiological factor of MND may be oxygen free radicals which damage neuronal cells when present in high concentrations. In detoxification processes, free radicals may be formed that become transformed into non toxic products. The major participants of these processes are the cytochromes P-450 CYP2E1, CYP2D6, the glutathione-S-transferases GSTM1, GSTT1, GSTP1, and the N-acetyltransferase NAT2. To investigate their role in the development of MND, we have studied polymorphisms in these genes in 75 Russian patients with MND and 105 controls. We have established a statistical distinction in frequencies of CYP2E1*1D, and GSTM1 (0/0) homozygotes between the patient and the control samples. Whereas the analysis of the CYP2D6, GSTT1, GSTP1 and NAT2 gene polymorphisms has revealed no differences, the GSTP1*A/GSTP1*A genotype was associated with classical upper and lower motor neuron involvement. The GSTP1*B allele was associated predominantly with lower and upper motor neuron involvement. We propose that the genes of phases I and II of the detoxification system, CYP2E1, GSTP1, and GSTM1, participate in the development of sporadic MND in patients in Russia.
@ARTICLE{Shadrina200631,
author={Shadrina, M.I. and Slominsky, P.A. and Zherebtsova, A.L. and Levitsky, G.N. and Levitskaya, N.I. and Alekhin, A.V. and Semenova, E.V. and Serdyuk, A.V. and Skvortsova, V.L. and Limborska, S.A.},
title={Detoxification gene polymorphisms and susceptibility to sporadic motor neuron disease in the Russian population},
journal={Balkan Journal of Medical Genetics},
year={2006},
volume={9},
number={1-2},
pages={31-41},
note={cited By 0},
url={https://www.scopus.com/inward/record.uri?eid=2-s2.0-33847047176&partnerID=40&md5=3032bf178ce2c5b63c1c8996952a79f9},
affiliation={Institute of Molecular Genetics, Russian Academy of Sciences, Kurchatov sq.2, Moscow 123 182, Russian Federation; Department of Fundamental and Clinical Neurology, Russian State Medical University, Moscow, Russian Federation},
abstract={Motor neuron disease (MND) results in selective degeneration of motor neurons of the cerebral cortex, brain stem and spinal cord. It is a complex disease in the pathogenesis of which many genetic systems may be involved. A significant etiological factor of MND may be oxygen free radicals which damage neuronal cells when present in high concentrations. In detoxification processes, free radicals may be formed that become transformed into non toxic products. The major participants of these processes are the cytochromes P-450 CYP2E1, CYP2D6, the glutathione-S-transferases GSTM1, GSTT1, GSTP1, and the N-acetyltransferase NAT2. To investigate their role in the development of MND, we have studied polymorphisms in these genes in 75 Russian patients with MND and 105 controls. We have established a statistical distinction in frequencies of CYP2E1*1D, and GSTM1 (0/0) homozygotes between the patient and the control samples. Whereas the analysis of the CYP2D6, GSTT1, GSTP1 and NAT2 gene polymorphisms has revealed no differences, the GSTP1*A/GSTP1*A genotype was associated with classical upper and lower motor neuron involvement. The GSTP1*B allele was associated predominantly with lower and upper motor neuron involvement. We propose that the genes of phases I and II of the detoxification system, CYP2E1, GSTP1, and GSTM1, participate in the development of sporadic MND in patients in Russia.},
author_keywords={Detoxification processes; Gene polymorphisms; Motor neuron disease (MND)},
correspondence_address1={Shadrina, M.I.; Institute of Molecular Genetics, Russian Academy of Sciences, Kurchatov sq.2, Moscow 123 182, Russian Federation; email: shadrina@img.ras.ru},
issn={13110160},
coden={BJMGF},
language={English},
abbrev_source_title={Balk. J. Med. Genet.},
document_type={Article},
source={Scopus},
}
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