Amyotrophic lateral sclerosis (ALS) is a fatal neurological disease characterized by rapid degeneration. The most famous patient suffering from this disease was the English theoretical physicist Stephen Hawking.
According to the WHO, the incidence of this disease is 2.5 cases per 100,000 people, which means that in Russia there are approximately 7,500 patients. There are hereditary forms of the disease, when the descendants inherit the "broken" gene from their parents. There is also a non-hereditary form of the disease, where the risk is roughly 1 in 300 and increases with age (the most at-risk being men, military personnel, smokers and handball players).
Researchers from the National Research University "Belgorod State University" (BelSU) have shown that the drugs at present used to treat ALS prolong patients' lives by only two to three months. As part of an international team of scientists, they conducted research on an animal model of amyotrophic lateral sclerosis created in Russia - FUS transgenic mice. These mice develop the same symptoms of the disease as humans, and without treatment, they die of paralysis at the age of four months. The model created by scientists makes it possible to study drugs which are showing promise without traumatizing patients.
The scientists' experiments on transgenic mice have confirmed that the treatment reduced levels of inflammatory signaling molecules in the spinal cord. The study results were published in the peer-reviewed medical journal Biomedicine & Pharmacotherapy.
"We have found that the studied bioavailable vitamin B1 derivative (O,S-Dibenzoyl Thiamine), which is a powerful antioxidant, showed efficacy against ALS in transgenic mice. The mice that received the treatment showed greater mobility, less weight loss, and less brain damage," Alexei Deikin, Associate Professor at the BelSU Department of Pharmacology and Clinical Pharmacology, Director of the Joint Center for Genetic Technologies, told Sputnik.
The scientists also discovered that the application of the test substance caused the body to respond at the molecular level: the level of inflammatory signaling molecules (glycogen synthase kinase-3β (GSK-3β) and interleukin IL-1β) in the spinal cord was reduced. A nuclear magnetic resonance imaging study revealed a specific metabolome of the transgenic mice, which the researchers believe will allow them to monitor the dynamics of the disease.
According to the BelSU scientists, their study paves the way for new approaches to the diagnosis and treatment of amyotrophic lateral sclerosis.
Deikin said that the work of the international research team would not have been possible without the participation of Professor Tatyana Strekalova of the Sechenov First Moscow State Medical University.
The studies were carried out in the National Research University "Belgorod State University” (BelSU) in cooperation with the University of Oxford; the Sechenov First Moscow State Medical University; the Institute of General Pathology and Pathophysiology; the University of Liège; the Institute of Physiologically Active Compounds of the Russian Academy of Sciences; and Maastricht University.
The research has been carried out within the framework of the 'Priority 2030' development program, the 'Gene Therapy Clinic' project, and the 'Development of Gene Modeling Technologies in Medical and Biological Research, and Gene Therapy of Neuromuscular Diseases' grant of the Federal Scientific and Technical Program for the Development of Genetic Technologies.