A woman from Cincinnati, Ohio (USA) who was born with a very rare congenital disease (there are only 65 cases in the entire planet) that completely weakened her body’s defenses, allowing the entry of all kinds of viruses and bacteria , spontaneously healed one fine day. After this alleged miracle, today 20 years later, we can find out what exactly happened in his body thanks to a study led by the immunologist Philip Murphy of the National Institute of Allergy and Infectious Diseases of Bethesda, Maryland (USA) that collects the Cell magazine.
According to the scientists, the patient, named WHIM-09 to protect her privacy, was born with a mutation in one of her 25,000 genes; specifically the CXCR4 gene , associated with stem cells that form blood inside bones – including defenses before infections. That small and subtle but important change is what caused his illness. However, when the patient was 38 years old, she suffered chromotipsis , a strange phenomenon in which one of the chromosomes spontaneously bursts into pieces into a single cell and these remains end up repositioning themselves as they can in the body. Thanks to this “DNA earthquake”, the mutated gene that caused his disease disappeared along with 163 other genes, which led to his spontaneous cure.
“The cell in which the phenomenon occurred in our patient was no longer capable of causing WHIM syndrome because it was missing the diseased gene. Over time, the chromothripsis cell replaced all the unhealthy, blood-forming cells that were responsible for WHIM syndrome. As a result, the patient’s symptoms disappeared and she has been healthy for about 20 years . We consider it cured, ”explains Murphy, study leader.
Knowing that “chromothripsis can cure a disease, physicians who have patients with apparent miraculous cures may want to consider this phenomenon as a possible natural explanation,” says Murphy. So much so that this unusual case of the American woman can serve to improve gene therapies or even bone marrow transplants for people with leukemia thanks to the inactivation of a copy of the CXCR4 gene in each stem cell before a transplant.
