In Moscow, seven families live with a life-threatening mutation


Doctors identified in Moscow seven families that have a dangerous mutation inherited. Genetics FBGNU “Medical Genetics Research Center” argue that these deviations can lead to gradual mental retardation.

About ten people with a hereditary mutation have already reached the age of 30. This suggests that their life is more prone to danger than the younger generation. Suffering from this deviation for a long time could not conduct the correct diagnosis, which led to the development of the disease. In the course of the survey, metropolitan doctors detected transthyretin family amyloid polyneuropathy.
This pathology, even in the modern world, has not yet been thoroughly studied, therefore it is even more dangerous among other mutations. The first symptoms the patient observes after 30 years, at an early age people with a mutation do not feel any abnormalities. Soon after the first manifestations, death comes. With an exacerbation with progressive atrophy of muscles, a person dies within 7-12 years.
Many who suffered from this disease and died eventually did not even suspect during their lifetime that there is a dangerous mutation in their family. In the course of the survey of Muscovites, physicians identified 12 families whose members are susceptible or have an ailment. The majority of patients live in large cities of Moscow, Petersburg, Kazan.


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