Found genetic disorder causing strokes in children

The scientific team of the University of Turku and researchers from the National Institute of health (USA) found that inherited mutations in a blood enzyme – ADA2 cause of sporadic fevers, skin rashes and stroke in early childhood. A genetic disease called deficiency of ADA2, or DADA2.





The disease has a wide range of symptoms and its severity varies significantly, which presented a challenge to accurate diagnosis. As the cause of the disease now known, it will be possible to confirm DADA2 by using the gene sequence or measurement of enzymatic activity ADA2.Group Andrey Zavyalov, one of the researchers, currently working on the development of new tools for diagnosis DADA2.

The discovery of the molecular basis of DADA2 has positive implications for treatment. For example, frozen plasma of healthy donors can be used to restore ADA2. The scientists also Anton and Andrew Zavialova work on developing artificial forms of the protein. "We have a great experience and a wealth of structural information for the development of therapeutic ADA2", said Dr Anton Zavialov.





Source: nauka24news.ru/