Tay-Sachs disease is one of the orphan diseases currently in focus of
attention for many research groups in the world. This disorder occurs
due to gene mutations in one of the lysosomal enzymes (β-hexosaminidase
A) and leads to the accumulation of specific lipids (GM2 gangliosides)
in the cells of the nervous system. The disease is characterized by
progressive neurodegeneration, leading to disability and subsequent
death. Today, there are no drugs which can cure it.
Scientists have investigated the effects of curcumin and cord blood
cell transplantation in Tay-Sachs disease. Cord blood cell
transplantation is often used in lysosomal storage diseases to increase
the level of functionally active enzymes, since donors do not have
mutations in the β-hexosaminidase A gene. Transplanting cells which
synthesize a working enzyme can prevent further progression of the
disease, thereby prolonging the life of patients. Curcumin is known as a
dietary supplement that is beneficial for its anti-inflammatory and
antioxidant properties in many neurodegenerative diseases. According to
scientists, combination therapy combining these approaches can relieve
symptoms of the disease and improve the condition of patients.
The researchers have shown that after transplantation of umbilical
cord blood cells in the patient’s plasma, the concentration of the
missing enzyme increases. This effect is achieved due to the fact that
the umbilical cord blood contains stem cells, which are the source of
normal enzymes. In addition, both curcumin intake and transplantation
resulted in a decrease in inflammation, which was confirmed by measuring
the level of inflammatory cytokines in the patient’s blood plasma.
“Tay-Sachs disease is associated with severe neurodegeneration and
neuroinflammation. An increase in the level of inflammatory cytokines
leads to the migration of activated microglia and astrogliosis, which is
characteristic of gangliosidosis. Umbilical cord blood is rich in
hematopoietic stem cells that have immunoregulatory properties. Also,
donor cord blood cells produce a normal enzyme. Therefore,
transplantation can lead to suppression of the inflammatory response and
reduce the amount of accumulated GM2 gangliosides,” says co-author,
Professor Albert Rizvanov.
Valeriya Solovyeva, head of the genomic and cell
engineering group at Gene and Cell Technologies Lab, Lead Research
Associate, explained that curcumin at the molecular level affects
various processes in the human body. In particular, it is able to
suppress inflammatory responses by lowering the level of inflammatory
cytokines and has a beneficial effect on the course of neurodegenerative
diseases, which has been confirmed by many clinical studies. However,
the molecular mechanisms of the effect of curcumin on the body of
patients with Tay-Sachs disease have not been studied.
Importantly, the described approach is not a clinical recommendation
because the paper only covers a single case report. Clinical trials are
needed to support the takeaways from the research.
Source: News Release
Kazan Federal University
November 2, 2021