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t h
E u r o S c i C o n C o n f e r e n c e o n
Neurology & Neurological
Disorders
Neurology 2018
J u l y 1 2 - 1 3 , 2 0 1 8
P a r i s , F r a n c e
Page 79
Journal of Neurology and Neuroscience
ISSN: 2171-6625
T
he sample of patients for pharmacogenetic analysis was 88 patients with
a pharmacoresistant course of epilepsy (the presence of epileptic seizures
that had not been recovered in patients for more than 12months). The diagnosis
of epilepsy was established after clinical-neurological, electrographic and
neurovisualizational methods of investigation. Comparative aspect was per-
formed in 68 patients with favorable epilepsy and in 60 healthy donors of Uzbek
nationality. At the beginning of the work, we were able to select and optimize
the work of oligo primer systems for the study of polymorphisms and predictive
efficacy of the 1236 T/C and 13435 T/C of the MDR gene. For polymorphism
1236 T/C of the MDR gene, sensitivity and specificity showed average values
and corresponded to SE=0.66 and SP=0.53. At the same time, the calculated
AUC (0.60) also shows the average level of effectiveness according to the
classifier of this marker as an independent candidate gene. Because of high
frequency of the 13435 T/C polymor-phism of the MDR1 gene, its prognostic
value also turned out to be high (SP=0.81) and an aver-age sensitivity level
with the SE index of 0.6, compared to all other loci (in which these values
deviated significantly in the direction of specificity), one can speak of a good
independent effect of this on the risk of developing pharmacoresistance in the
Uzbek population AUC=0.70. Evalu-ation of the efficiency of genetic markers
430C>T gene also proved to be very low. These data forces us to conclude
that these polymorphisms are an ineffective classifier for marking a re-
sistant form of epilepsy. Thus, of all the candidate genes we studied, only the
polymorphisms 1236 and 13435 of the MDR1 gene are effective classifiers for
predicting the development of pharmacoresistance.
Biography
Tuychibaeva NM is an Assistant Professor, Neurologist at
Tashkent Medical Academy, depart-ment of Neurology and
Intermed Clinic City Child Diagnostics Center respectively. She
has completed her Bachelor’s degree (1990-1996) and Clinical
Fellowship in Adult Neurology (1996-1999) at Tashkent Medical
Academy, Uzbekistan. She obtained her PhD in Medicine
(March 29, 2007) on Clinical features of Consequence of light
cerebral trauma from Second Tashkent State Medical Institute.
She has done training courses on epilepsy, pediatric related
topics. The main fields of her clinical researches are neurology
and medical genetics. She has an expertise in epilepsy, but
now she is also interested in different movement disorders,
especially in childhood
nodira-1973@mail.ruTuychibaeva NM, Rakhimbaeva GS and Porsokhonova KE
Tashkent Medical Academy, Uzbekistan
Tuychibaeva NM et al., J Neurol Neurosci 2018, Volume: 9
DOI: 10.21767/2171-6625-C1-009
Some pharmacogenetic aspects of patients of the Uzbek
population with pharmacoresistant flow of epilepsy