Serum Cytokine Profile, Beta-Hexosaminidase A Enzymatic Activity and GM2 Ganglioside Levels in the Plasma of a Tay-Sachs Disease Patient after Cord Blood Cell Transplantation and Curcumin Administration: A Case Report

Tay-Sachs disease (TSD) is a progressive neurodegenerative disorder that occurs due to a deficiency of a β hexosaminidase A (HexA) enzyme, resulting in the accumulation of GM2 gangliosides. In this work, we analyzed the effect of umbilical cord blood cell transplantation (UCBCT) and curcumin administration on the course of the disease in a patient with adult TSD. The patient’s serum cytokine profile was determined using multiplex analysis. The level of GM2 gangliosides in plasma was determined using mass spectrometry. The enzymatic activity of HexA in the plasma of the patient was assessed using a fluorescent substrate assay. The HexA α-subunit (HexA) concentration was determined using ELISA. It was shown that both UCBCT and curcumin administration led to a change in the patient’s cytokine profile. The UCBCT resulted in an increase in the concentration of HexA in the patient’s serum and in an improvement in the patient’s neurological status. However, neither UCBCT nor curcumin were able to alter HexA activity and the level of GM2 in patient’s plasma. The data obtained indicate that UCBCT and curcumin administration can alter the immunity of a patient with TSD, reduce the level of inflammatory cytokines and thereby improve the patient’s condition.

Clinical and functional aspects of cord blood cell transplantation in patients with distal lesion of lower limb arteries

To carry out a comparative analysis of the clinical condition of patients with distal lesions of the arterial bed using standard conservative therapy with cord blood cell transplantation and without it. The experimental group included patients with manifestations of chronic lower limb ischemia against the background of atherosclerosis, who underwent cord blood cell transplantation in combination with conservative therapy. The control group included patients with obliterating atherosclerosis and distal vascular lesions of the lower extremities, received a basic course of conservative therapy. To determine the quality of life before and after cord blood cell transplantation, we used a number of standardized questionnaires, which helped to determine the distance of intermittent claudication and make a subjective assessment of the personal well-being level of patients. To analyze the state of microcirculation in the ischemic limb, we used the laser Doppler flowmetry method. The following changes were observed after the cord blood cell transplantation: an improvement in the general state of patients, a decrease in the degree of ischemia according to Rutherford's classification, an increase in the distance and speed of painless walking during the first 3 months by 5-10%, and 1.3 times in 12 months compared with the control group. The improvement in the microcirculatory parameters of laser Doppler flowmetry was noted from the end of the first to the 12th month after transplantation, which indicated an improvement in microhemodynamics. The use of cord blood cell transplantation in order to stimulate angiogenesis allows one to obtain a long-term positive clinical effect, which manifests itself in the form of an increase in the distance and speed of painless walking, improved working capacity, and improved personal well-being of patients in the physical, psychological and socio-economic field, correlated with laser Doppler flowmetry data and expands the possibilities of successful treatment of patients with chronic ischemia of the lower extremities on the background of obliterating atherosclerosis.