Technologies

Scientists have found a woman with a rare mutation: she copes with Alzheimer’s disease. This is an important step in the fight against the disease.

The patient’s illness should have developed by the age of 50. She is now almost 80, and she has never encountered dementia.

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Scientists from the University of Antioquia in Colombia published a study on resistance to Alzheimer’s disease in the journal Nature . Its main character is an anonymous Colombian with a rare genetic mutation that inhibits the development of the disease.

Alzheimer’s disease is a form of dementia. According to the genetic profile, she was supposed to develop in the patient by 50 years. It was estimated that at about forty years old she would begin to have memory problems that would worsen until her death at the age of about sixty. Now she is almost eighty, and her cognitive abilities have hardly decreased.

Researchers have found a woman has a very rare mutation: it minimizes the formation of a particular compound. This helps prevent the disease.That is, in the patient’s genome there are two mutations at once: one accelerates the onset of the disease, and the other postpones it.

We still managed to find weak cognitive impairments, but when they arose it is not clear. Therefore, it is impossible to determine at what stage the development of the disease stopped. Presumably, the patient’s resistance to neurodegeneration is associated with tau aggregation – this protein in the brain of a woman is much less than that of other carriers.

The New YorkTimes notes that the study was conducted just when new approaches were needed to combat Alzheimer’s. Billions of dollars have already been spent on developing and testing the treatment, and about two hundred drug trials have failed. Over the past fifteen years, no way to combat dementia has been approved.

Scientists working with a patient from Colombia managed to develop a compound that mimicked the effect of her mutationin laboratory experiments. Technology can help create a cure to prevent the formation of a dangerous compound. But in the near future, therapy will not appear: the protective mechanism will have to be tested for a long time on laboratory animals and human brain cells.

Why Didn’t She Get Alzheimer’s? The Answer Could …Researchers have found a woman with a rare genetic mutation that has protected her from dementia … WWW.NYTIMES.COM

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