A breakthrough in the study came when collaborators from the National Institutes of Health, USA and Ludwig Maximilians University, Munich teamed up with clinical geneticists at the Human Genetics Research Center at St. George's University of London lead by Reza Sharifi. She stated,
“By studying genetic mutations in a group of patients with severe neurodegenerative disease, we found a gene that was mutated in a family that had several cases of severe progressive neurodegenerative and seizure disorder.”
She continued to explain that the product of this gene, named TARG1 (for terminal ADP-ribose protein glycohydrolase), exhibited the long-sought-after enzyme activity that fully removes ADP-ribose from proteins, and was further required for the rapid increase of cells and response to DNA damage.
The full research article can be found at The EMBO Journal.
If you read further into the linked articles it talks about how researchers found a gene that was mutated in a family that had several cases of severe progressive neurodegenerative and seizure disorder. The findings revealed that the attaching and removing chains of ADP-ribose to proteins are important to cell survivability and DNA repair. I find it simply amazing that they can analyze patients with a family history of neurodegeneration to gain a better understanding of this mechanism and perhaps give them a better understanding of what is happening to them and eventually, I believe, how to correct it. They are getting ever closer to finding out the exact enzyme(s) that may be responsible for it.