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- the group Carles Vilariño-Güell and Dessa Sadovnick has identified the first inherited genetic cause of multiple sclerosis.
- For forty years had refused to have a genetic origin. The technology shows how wrong we were.
More than 8,600 kilometers from home, Carles Vilariño-Güell not imagine that among those thirteen thousand samples DNA was the ‘Holy Grail’ of the multiple sclerosis . When he began working with Dessa Sadovnick , the Herculean task that both addressed the seemingly impossible: find the genetic cause of an autoimmune disease that affects more than 2.5 million people worldwide. As if two Quixotes it were, Vilariño-Güell and Sadovnick began their particular struggle of giants. The objective? Find the first gene to produce multiple sclerosis, described by science as “impossible” for more than forty years something.
Science had rejected for decades that multiple sclerosis had a direct genetic cause. But he was wrong
Between jokes, negations and doubts, the investigation had rejected the possibility that multiple sclerosis was caused by any error or genetic mutation. The Sadovnick itself was forced to end a talk at a scientific conference early, when the moderator decided that his hypothesis about the genetics of multiple sclerosis was “absurd”. And yet, not wrong. A study published in the journal Neuron , it has identified the first gene that causes the appearance of multiple sclerosis. Its discovery has been made possible by technology massive DNA sequencing . The ‘Holy Grail’ was not a utopia.
The ‘Holy Grail’ of multiple sclerosis
“I have been fortunate to participate in the past in the discovery of some mutations and genes associated with family variants of common neurological diseases, such as DNAJC13 and VPS35 in Parkinson’s disease, for example. But this finding is the proudest I feel because it is first causative gene multiple sclerosis, and hope you have a wide impact on future treatment options for patients, “explained Vilariño-Güell Hipertextual . Scientist University of British Columbia highlights that this is a “clear and irrefutable evidence” that there are also family variants in the case of multiple sclerosis, which expected to result in a boost genetic research of this disorder.
Unlike Alzheimer’s or Parkinson’s disease, “had not been shown to have hereditary cases in multiple sclerosis,” says Pablo Villoslada , head of the IDIBAPS group pathogenetic and new therapies in MS. The gene itself was linked to a 30% higher risk for this disease, but “never found an inherited genetic cause.” In the researcher, founder and scientific advisor to the spin-off Bionure , “the study is very important because we had spent years searching for the genetic basis of the disease.” Their discovery shows, as Vilariño-Güell noted that the disorder can be inherited, contrary to what was thought to date.
Multiple sclerosis is a disease that affects the central nervous system. For some as yet unknown reason, the “package” covering our nerve fiber is destroyed. These protective layers are known as pods myelin , to disappear, fail to fulfill their function. As a result, nerves lose the ability to conduct electrical impulses to and from the brain, causing symptoms such as fatigue, lack of balance, pain, difficulty speaking, visual and cognitive impairments or tremors.
So far it knew existed genetic, immunological and environmental factors that aumentaban the predisposition of this inflammatory disorder. As noted by the specialist Sea Mendibe in the blog Multiple Sclerosis Foundation Euskadi , studies in the past allowed rule out that were a hereditary disease. However, the work presented now by Vilariño-Güell and Sadovnick changes everything we knew about it, to identify the first genetic cause of this disease.
is the first time that a genetic mutation that causes identified this neurological disease
“the finding is very important because it is the first time we identified a mutation can cause disease,” says Vilariño-Güell this medium. Researchers had previously determined DNA variants that increased propensity of developing multiple sclerosis in a 1.1-1.3%. “If in Canada the risk in the general population is 0.1%, the factors associated with the increased up 0.13%,” explains the scientist as an example. Have identified the mutation that is associated with a probability of at least 60-70% of multiple sclerosis suffer , as estimated in the two families studied. This shows that, contrary to what was believed, family variants of the neurological disorder exist and their analysis will allow us to better understand the molecular mechanisms that cause the disease, and promote the development of animal and more effective treatments models.
Search for “a needle in a haystack”
in this research, technology has played a key role. The massive DNA sequencing identified the pathogenic mutation NRH13 , which has also been associated with rapid progression of the illness. “Sequencing by NGS [next-generation sequencing, in English] has been key. The families were studied for years, but has only now when we have been able to identify genes and mutations such as those described,” says the researcher. Little could imagine Carles Vilariño-Güell, when he lived in the Catalan town of Torelló, in Osona (Barcelona), that one day his work could change both our knowledge of one of the most serious neurological diseases . The frustration shared for years he and Sadovnick is rewarded now for a finding that will help thousands of patients around the world.
The technology of mass sequencing DNA has been key to research
After selecting twenty-five families from among the thirteen thousand DNA samples that harbored in the laboratory, Vilariño-Güell set out to find “a needle in a haystack” . Fortunately, technology was on his side. So she could identify a genetic error changing one letter for another in the DNA of patients. In the two families where the mutation found two-thirds of relatives developed the disease. All had the same alteration in the genome. Such genetic error produced in turn a defective protein (LXRA) involved in controlling the Flash , a process associated with multiple sclerosis.
According Villoslada, the gene analyzed is important for both the immune system and the nervous. Matter of time replicate and validate the results presented today, in addition to determining the role of mutation and if possible develop specific therapies against it.
is the mutation found the only cause of the disease? Sadovnick categorically rejects that idea. “My inner self tells me that there will be more families where genetic influences, others where import more environmental factors and in some cases will be a similar contribution,” says the scientist. His discovery, however, shows for the first time that DNA plays an important role in multiple sclerosis.
The work will boost development of new therapies and diagnostic early
in the future, this work will help to develop better animal models to study and promote research of new drugs. In the case of families affected by the disorder, they may undergo screening to know whether they have the mutation, which is present, according to estimates, one in every thousand people. If the answer is yes, detection and monitoring of patients will accelerate, which will improve their care. According to Pablo Villoslada, the discovery also serve to better understand the prognosis of patients, because the “error” found in DNA correlates with a more aggressive progression of the disease. “I am sure that in the coming years more mutations are discovered. Each of the genes and mutations will provide a new piece for this big puzzle,” concludes Vilariño-Güell. The challenge has just begun.
June 1, 2016
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