ABSTRACT
AIM: Clarification of the pathogenesis of cognitive disorders in patients with Duchenne muscular dystrophy in the clinical laboratory and molecular genetic study. MATERIAL AND METHODS: Thirty-six male patients with Duchenne muscular dystrophy (DMD), aged from 5 to 22 years (mean age 13.7 years), were examined. The control group consisted of 30 healthy people (7-22 years old, mean age 13.8). The clinical, molecular-genetic and laboratory study was conducted. The search for mutations in the dystrophin gene was carried out using multiplex PCR and multiplex ligation-dependent probe amplification. The laboratory study included determination of neurotrophins: brain-derived neurotrophic factor (BDNF), nerve growth factor (NGF) and ciliary neurotrophic factor (CNTF) using immunoenzyme method in serum. RESULTS AND CONCLUSION: Severe cognitive impairment was found in 33% of patients with DMD. The distribution of mutations in the DMD gene was not uniform, most often the mutations were found in the region from exon 43 to exon 50. Serum concentration of NGF in patients with DMD was higher than in the control group (2391 pg/ml [1587; 4136] and 553 pg / ml [314; 864], respectively (p<0.001)). In the group of patients with cognitive disorders, there was a decreased concentration of BGF (23 670 [21 700; 30 720] pg/ml (p<0.001)). In patients with BGF concentration less than 31 000 pg/ml, the chances of cognitive disorders were more than 10 times higher (p<0.001, odds ratio OR=12.0, 95% CI [1.9-76.4]). Thus, biochemical mechanisms, such as NGF overexpression and BGF deficiency, are involved in the development of cognitive disorders in patients with DMD.
