At an early age, her own immune system began to turn against her, causing her pain and fatigue. The young Spanish patient was diagnosed with a severe case of lupus when she was only seven years old because of her high blood pressure and a leaking heart valve.
This potentially fatal and incurable disease affects around 5 million people worldwide and has an important clue to it that has been discovered by Gabriela's genome.
The immune system can start attacking any part of the body, so there are different symptoms among patients. This makes it difficult to diagnose.
There are different degrees of symptoms, including fatigue, joint pains, and other organ problems.
It has been a huge challenge to find effective treatments for the disease; current treatments are mostly immune-suppressors, which work by dialing down the immune system to alleviate symptoms.
Suppressing immune systems can have potentially disabling side effects.
Grant Brown from the Australian National University told New Scientist that Gabriela presented as an interesting case due to her early diagnosis.
This disease impacts nine times as many women as men because of a gene in the X chromosomes.
Vinuesa explains that females with an over stimulated TLR7 gene can have two functioning copies, potentially doubling the harm, whereas men can only get one copy of the gene.
When genes go wrong, they can no longer achieve their purpose. A genetic change can get the product to start doing something that is completely new instead of doing something that is already done. A gain-of-function mutation can cause a lot of trouble in our biological circuitry.
The TLR7 gene should be on the prowl for a viral RNA that should be detected by binding to guanosine and then called in the cavalry of immune cells to deal with the invader.
The altered version of TLR7 was able to bind to smaller amounts of the molecule in different configurations because it was hypersensitive to guanosine.
Through a circuit of cell signaling, the immune system's B cells were attacked by traitorous cells.
The team genetically engineered mice to have the TLR7 gene, so they could confirm the cause of the disease. The new mouse model was named by the teenager.
The team was able to understand the faulty immune cell summon circuit after further tests in kika mice.
The survival of B cells that bind to self-antigen through their surface B cell receptor is suggested by the results.
In previous studies in mice, it has been shown that duplicating TLR7 increases autoimmunity and that deletion of it prevents or fixes the genes in mice with lupus. There are two other people with the disease who have been found to have different parts of the B cell signaling circuit.
While it may only be a small number of people with lupus who have variant in TLR7 itself, we do know that many patients have signs of over activity in the pathway.
The researchers are working with pharmaceutical companies to find treatments for the faulty genes.
There are other systemic autoimmune diseases that fit within the same family of diseases, likeheumatoid arthritis and dermatomyositis.
I hope this finding will give hope to people with the disease and make them feel like they are not alone in their fight.
The research was published in Nature.
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