The cause of multiple sclerosis is a mutation
The genetic nature of multiple sclerosis has been proven
Scientists from the University of British Columbia (Canada) have proved that multiple sclerosis can be caused by just one genetic mutation. This rare change in DNA provokes the development of a more destructive form of neurological disease. The press release of the article (Wang et al., Nuclear Receptor NR1H3 in Familial Multiple Sclerosis – VM) published in the journal Neuron is available on the University's website (UBC-Vancouver Coastal Health scientists find genetic cause of multiple sclerosis).
The mutation was discovered when studying two Canadian families in which several people suffered from rapidly progressive multiple sclerosis. The usual symptoms for the disease are more severe, and the disease itself does not respond to effective treatment. According to scientists, the discovery refutes the opinion that no forms of multiple sclerosis are inherited.
The NR1H3 gene in which the mutation is found produces a protein known as LXRA. It regulates the activity of other genes that control the processes of inflammation, preventing the destruction of myelin sheaths in neurons, or produce new myelin to repair damage. Only one nucleotide replacement in the NR1H3 gene leads to the synthesis of a defective protein that cannot activate the necessary genes.
Researchers have determined that the mutation is present in one in a thousand people with multiple sclerosis. However, studying the biochemical pathways in which the damaged gene plays a role can help to understand the causes of other rapidly progressing forms of the disease, which affect 15 percent of people with multiple sclerosis. In addition, there is a relapsing-remitting form, in which a person gets better, then worse, but it also gradually becomes progressive.
Multiple sclerosis is an autoimmune disease. It occurs when the immune system begins to attack the myelin sheath, which isolates neurons and provides rapid transmission of electrical signals. When the myelin sheaths are damaged, the connections between the brain and other parts of the body are disrupted, which leads to impaired vision, muscle weakness, difficulties in coordinating movement, as well as cognitive disorders.
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02.06.2016