Исследование селективной дегенерации мотонейронов коры головного мозга. Клинические и патоморфологические черты болезни двигательного нейрона. Влияние наследственности и факторов окружающей среды. Определение частоты аллелей и распределения генотипов.
Аннотация к работе
Detoxication gene polymorphism and susceptibility to sporadic motor neuron disease in Russian populationMotor neuron disease (MND) is caused by selective degeneration of motor neurons of the cerebral cortex, brain stem and spinal cord. Significant statistical differences have been found in frequency of the alleles CYP2E1*1D, CYP2D6*4 and GSTM1(0/0) and genotypes homozygous for GSTM1 (0) between the study and control groups. The analysis of GSTT1, GSTP1 and NAT1 gene polymorphisms has revealed no between-group differences in distribution of different alleles and genotypes. The GSTP1*A/ GSTP1*A genotype was associated with a classical upper and lower motor neuron involvement and the GSTP1*A allele with predominant lower and upper motor neuron involvement. Key words: motor neuron disease, molecular genetic study, detoxication system genes.