A study by UT Southwestern identified the genetic mutation causing optic neuromyelitis. This is the most important genetic study so far conducted on the disease. Scientists have collected the DNA of over 1,200 patients. Thanks to the discovery, it will be possible to better understand the development of the disease and improve its treatments.
Optical neuromyelitis is a potentially fatal genetic disease. In those who suffer from it, the immune system attacks the cells of the optic nerves of the spinal cord. This causes blindness and paralysis. Some patients manage to recover thanks to treatments and rehabilitation. Many others receive a wrong diagnosis of multiple sclerosis and are at risk for permanent damage.
Genetic analyzes have unveiled a variation in a complementary component of a gene. The gene produces a protein that helps the antibodies to bind and damage everything that the antibodies attack. If the gene works well, the antibodies bind to harmful bacteria. In the case of neuromyelitis, the antibodies bind to parts of the nervous system which are then damaged.
Identifying the genetic variant, together with the clinical data, could facilitate the diagnosis. It will also be a way to immediately identify the best treatments for patients, based on the type of illness they suffer from. For some subjects the standard treatments are sufficient, for others not. For the moment we do not know the reason, but the DNA could give an answer.
Usually neuromyelitis optic appears along with other genetic diseases. It is rare that it occurs alone: it affects about 0.3 US per 100,000. This makes it even more difficult to study it and understand its genetic mechanisms. The study in question aims to take a step forward, analyzing the whole genome and not just isolated portions like others.