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Deafness-causing gene discovered

gluch829107e7A research team from the John McDonald Division of Human Genetics and the John Hussman Institute for Human Genomics at the Miller School of Medicine at the University of Miami found that parental-transmitted mutations in the MINAR2 gene lead to deafness. According to scientists, the progressive nature of the disease will potentially allow the development of therapies to restore hearing in some patients. The results of the study are published in the journal PNAS.

In the course of the work, the specialists studied four families in which abnormalities in the MINAR2 gene were observed. Variations in this gene affect the formation of inner ear hair cells, which are key to hearing. It is these cells that are responsible for converting sound into electrical impulses, which are then sent to the brain. At the birth of deaf children, they initially lack hair cells or have them, but in a very small amount. Therefore, therapy is ineffective. However, in the case of the MINAR2 gene mutation, hair cell dysfunction appears only at a certain age, which will allow patients to be cured in the future.

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