Scientists have found a cure for rare genetic diseases

Ученые нашли лечение для редкого генетического заболевания

Due to a rare genetic mutation people with blood leukocyte adhesion deficiency type 1 (ДАЛ1) are often faced with severe bacterial infections and gum disease. Often teeth are lost at an early age.

In a new study published in the Journal of Leukocyte Biology, scientists from the School of dentistry at the University of Pennsylvania have identified a new strategy to address the root cause of symptoms in patients with ДАЛ1. To reduce inflammation on the background of the shortage of neutrophils, the researchers used a molecule, simulating efferies. As a result of treatment in animals with simulated ДАЛ1, not only prevented an inflammation of the gums and loss of dental bone. Bone and healthy tissue regenerates faster.

“This treatment can be used not only for ДАЛ1,” notes George Hajishengallis, senior author and Professor in the School of dentistry at the University of Pennsylvania. “There are other conditions under which we observed the accumulation of bad or absence of neutrophils in the gingiva, for example, the syndrome of Papillon-Lefevre syndrome or Chediak-Higashi. There are also several conditions that cause neutropenia, where the neutrophil count is low, for example, HIV or cancer. Treatment imitating efferies can be useful for them.”

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