Newly Discovered Genetic Disorder in Children Responsible for Strokes, Vascular Inflammation

A recent study conducted by researchers from the University of Turku (Finland), Andrey and Anton Zavialov, along with a team of researchers from the National Institutes of Health (NIH) have come across a group of inherited mutations in blood enzymes known as ADA2 that can cause skin rashes, sporadic fever and potentially recurring strokes at the start of early childhood. The disorder is marked by the deficiency of ADA2, or DADA2.

Due to the wide range of symptoms and varying degrees of severity, making the proper diagnosis can often times be difficulty. Researchers are still uncertain of the cause for the disease. However, gene sequencing or measuring of the enzymatic activity of ADA2 could help to confirm DADA2 and 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, via a press release. She is currently working on the development of the diagnostics along with a team of researchers.

New DADA2 treatments could hold important implications for the future treatment of the health issue. As ADA2 is missing in the blood streams of those affected by DADA2, researchers hope to better develop artificial forms of protein that could work similar to plasma given to restore the functionality of ADA2.

"We have an excellent experience and wealth of structural information for engineering therapeutic ADA2" said Dr. Anton Zavialov, via the release, who recently determined an atomic resolution 3D structure of the protein.

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More information regarding the findings can be seen via the New England Journal of Medicine.