Researchers Discovered a Genetic Disorder Causing Strokes and Vascular Inflammation in Children
The researchers from the University of Turku discovered a new hereditary disease which causes recurring strokes, among other things. The research was published in the prestigious New England Journal of Medicine.
Academy Research Fellows from the University of Turku, Andrey and Anton Zavialov, and the team of researchers of Aksentijevich and Kastner from the National Institutes of Health (NIH), USA, discovered that inherited mutations in a blood enzyme called ADA2 cause a syndrome of sporadic fevers, skin rashes and recurring strokes, beginning early in childhood. The novel genetic disorder is called DADA2, deficiency of ADA2.
The disease has a broad range of symptoms and its severity varies significantly, which represent a problem for making an accurate diagnosis. Since the cause of the disease is now known, it will be possible to confirm DADA2 by gene sequencing or measuring the enzymatic activity of ADA2.
The group of Dr. Andrey Zavialov is now working on development of novel DADA2 diagnostics.
– The screening for mutations in ADA2 or its activity in blood of patients will show how common the disease is and will likely provide explanation to some other poorly understood disorders, said Dr. Andrey Zavialov.
The discovery of the molecular basis of DADA2 has treatment implications. Since ADA2 circulates in the blood stream, the researchers are evaluating a way to replace ADA2 that is missing in the bloodstreams of those affected by DADA2. For example, freshly frozen plasma from healthy donors could be used to restore ADA2 functionality for treated patients.
The groups of Dr. Anton and Andrey Zavialov will also work on developing artificial forms of the protein.
– We have an excellent experience and wealth of structural information for engineering therapeutic ADA2, said Dr. Anton Zavialov, who recently determined an atomic resolution 3D structure of the protein.
The study has been published in the prestigious medical journal, New England Journal of Medicine.Dr. Andrey Zavialov is a group leader and Academy Research Fellow at the Center of Biotechnology of the University of Turku and Dr. Anton Zavialov is a group leader and academy research fellow at the Department of Chemistry, University of Turku.
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