Thirty-one unrelated phenylketonuria patients from the Moscow region were screened for mutations in the phenylalanine hydroxylase gene at the following codons: 408, 158, 261 and IVS-12. For detection of point mutations, polymerase chain reaction amplification was applied with allele-specific oligonucleotide hybridization. The following mutation frequencies were determined: codon 408 – 56.4%; codon 158 – 8.1%; codon 261 – 3.2%, and IVS-12 – 16%.

The article presents data on the found relationship of the RDN6265 polymorphism of the BDNF gene, serum BDNF level, and clinical and therapeutic parameters in patients with paranoid schizophrenia with the presence of therapeutic resistance. The object of the study are patients with diagnosed paranoid schizophrenia, divided into two groups according to the nature of the intervention: combination of electroconvulsive therapy with psychopharmacotherapy (EC T + PFT) and exclusively PFT. The results of the study indicate a significantly higher therapeutic response and a more pronounced reduction in psychopathological symptoms in patients of the combination therapy group (ECT + PFT). At the same time, it was found that serum BDNF tend to increase more when using the combined therapy option (ECT + PFT), mainly in patients with ValMet and MetMet genotypes. The initial results obtained will be further refined in the course of subsequent larger studies.