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

Abstract

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.

Curcumin Has Beneficial Effects on Lysosomal Alpha-Galactosidase: Potential Implications for the Cure of Fabry Disease

“…The beneficial effects of curcumin also have been described in cases of rare diseases such as Niemann–Pick type C disease (NPC) [ 17 ], neuronal ceroid lipofuscinosis (NCL) [ 83 ], and Tay–Sachs disease [ 18 ]. It is of utmost importance that for NPC, a triple combination therapy using miglustat, curcumin, and ibuprofen was investigated that resulted in a greater neuroprotective benefit compared with single and dual therapies [ 84 ].…”

“…The wide spectrum of its biological activities justifies the interest of the scientific community in this unique and interesting molecule [ 5 ]. Many pathologies such as cancer and chronic diseases, diabetes, Alzheimer’s disease, autoimmune diseases, and rare diseases have been discovered to benefit from curcumin treatment, often in combination with other drugs [ 6 , 7 , 8 , 9 , 10 , 11 , 12 , 13 , 14 , 15 , 16 , 17 , 18 ]. Its pleiotropic effects are related to its actions in different pathways that include the PI3K, Akt, mTOR, ERK5, AP-1, TGF-β, Wnt, β-catenin, Shh, PAK1, Rac1, STAT3, PPARγ, EBPα, NLRP3 inflammasome, p38MAPK, Nrf2, Notch-1, AMPK, TLR-4, and MyD-88 pathways.…”

Gut microbiome profiling in systemic sclerosis: a metagenomic approach

“…4B). Beta-hexosaminidase A enzyme deficiency is associated with Tay-Sachs disease (33) (38). Anti-DNA topoisomerase IIα autoantibody levels were increased in Japanese SSc patients compared to HC, and interstitial lung disease was more frequently observed in the SSc patients who had anti-DNA topoisomerase IIα antibody compared to SSc patients without the antibody (39).…”