According to a story from Newswise, a team of scientists and researchers have recently completed research that managed to reveal the genetic nature of the unusual rare disease neuromyelitis optica.
Using large scale DNA analysis, the team was able to discover a genetic mutation that is associated with the condition. This improved understanding of the disease could help in the development of new treatments.
Neuromyelitis optica, which is also known as Devic’s syndrome, is a condition that causes inflammation and demyelination that affects both the spine and the optic nerve. In some cases, the cause has been determined to be autoimmune, in which the immune system mistakenly attacks part of the body, but the origin of other cases had previously been a mystery.
The symptoms most commonly associated with neuromyelitis optica are blindness and loss of spinal cord functionality, causing paralysis. Other symptoms include muscle weakness, reduced touch sensation, and incontinence. Neuromyelitis optica often appears alongside a variety of conditions, such as certain viral infections and exposure to certain drugs. The disease is similar to multiple sclerosis in some ways, but lesions on the brain differ in comparison when they appear. Treatment plans include corticosteroids, and is primarily symptomatic. To learn more about neuromyelitis optica, click here.
The study utilized genetic data from a total of 1,200 patients. The success of this approach suggests that drawing from a larger pool of genomic material could be beneficial for researching other diseases that have yet to be evaluated. The study was first published in the journal Nature Communications, and identified a certain variant in a complement component gene that increased the likelihood of developing neuromyelitis optica.
Essentially, this variant produces a protein that attaches to antibodies. With it, the antibody can damage anything that the antibody attaches to. In neuromyelitis optica, these antibodies attach to the parts of the nervous system and cause the inflammation and destruction of myelin that follows.
There have been previous studies that have examined the genetic basis of this condition, and in a way this most recent study has helped better clarify the data from prior research, which has typically involved a smaller pool of genetic data.
