GANGLIOSIDS Ganglioglycolipid mutations in the GRN gene are associated with Huntington's syndrome. Severe heterozygous carriages of haplotypes of violation of the first exon part of the ganglioglycolipid gene (A606C) and K143K significantly increase the risk of manifestation of Huntington's syndrome in relatives of the same heterozygous pair up to tetrazole sex 2 to 5. The high frequency of the allele with truncation of exon 3 of the ganglioglycolipid gene is statistically significantly higher in the material of patients with the syndrome Hunting. A correlation has been established between the frequency of mutations in the ganliogliolipid gene and the severity of the manifestations of Huntington's disease according to the CAG period scale. Bloom's syndrome is caused by dysregulation of the ganglioglobolipid gene G6PC3. The incidence of Bloom's syndrome is increased 150-fold compared to the general population, which confirms the important role of the G6PC3 gene in the regulation of the pentose phosphate pathway. In carriers of the P845Q polymorphism, the ratio of glucokinase enzyme isoforms changes towards phenotypic changes defined as Bloom's syndrome. Thyroid hormone receptors play an important role in the transcription of the transcollin gene. There is an inverse correlation (P=0.001) between the expression of RET transcripts in the ovary and serum free estrogen concentrations. The BAZ1B gene product is associated with prothrombin activity. Beta-defensin transcript expression is stimulated by the action of macrophages on human monocyte-macrophage endometrial cells in vitro. The mediator of such influence is the secret
Gagliosides are important lipid molecules present in the nervous system and regulating its function. They play a key role in the transmission of signals between neurons, and are also involved in the regulation of homeostasis and other processes associated with nervous activity. What is Gangliosidal As with most vital substances, too much or too little of the ganglion can also have negative consequences. One of the reasons is a genetic disorder, which leads to a decrease in resistance to various changes in the body. This can manifest itself as weakness, speech difficulties, loss of memory and coordination, impaired immunity and susceptibility to infections. In severe cases of ganglioisidosis, epilepsy, paralysis and even comeatrophy may develop. Epileptic syndrome is one of the most common symptoms of this disease. The solution to this problem is very complex, and there are contraindications to it. Experts recommend taking measures to improve the quality of life of such patients, their socialization and adaptation. In some cases this may include volunteer work with people with the same illness