Finding the PRKAR1A gene
The first to be discovered gene associated with Carney Complex (CNC) was the PRKAR1A Gene. It’s considered one of the main genes for CNC. Of the 750 CNC cases documented worldwide 70% carry a mutation on this gene. The other 30% have a different underlying genetic cause that has not yet been identified.
Approximately 70% of the total documented cases have an affected parent (67 families) who passed their gene mutation on. This is called autosomal dominant inheritance. The remaining 30% have no known affected relatives and carry de novo germline mutations (a genetic mutation found for the first time in one family member). These de novo cases too can pass their genetic mutation on to their children.
Interested in finding out more about how and when the PRKAR1A gene was discovered, Angela and I asked Dr. C. Stratakis about it. This is what he shared with us:
‘My connection with Dr. Carney started by me contacting him, first, in February 1994. A year later, I visited him at the Mayo Clinic (Febr 1995), started collecting families and samples and by 1996, we had our first major paper out in Journal of Clinical Investigation. The PRKAR1A gene was not discovered until March 2000; I found the first mutations on a Sunday that month. The final paper came out in print September 2000 and the discovery was featured on the cover of Nature Genetics which is now framed at my office.’
Constantine Stratakis
Article in the Nature Genetics, volume 26, September 2000 – a copy kindly provided by Dr. C. Stratakis
About Constantine A. Stratakis
‘Constantine A. Stratakis’ origins are on the island of Crete and Galaxidi, but he was born in 1965 in Livadia and grew up in Athens. He received his Masters in Medicine and his Doctorate in Endocrinology from the Kapodistrian University of Athens in 1989 and 1994. He has worked in several countries and universities before joining the NICHD.
In 1990, he did a pediatrics residency at Georgetown University Medical School, followed by Fellowships in Paediatric Endocrinology, Medical Genetics and Clinical Dismorphology.
Dr. Stratakis has identified the genes for Carney Complex and Carney-Stratakis Syndrome, and other genetic defects leading to adrenal and other tumors. His laboratory has published extensively in the fields of paediatric inherited disorders and cancer genetics.’1
March 2021 war his last month at the NIH as a full time employee in his position as Senior Investigator. He is transitioning to a scientist emeritus after 28 years of service. 25 of these 28 years he has worked on Carney Complex.
He plans to return to his homeland, Greece, and in Athens will be CSO and R&D Head, and Founding Executive Director of a new Research Institute (RI) dedicated to Genetics.
Want to learn a little more about what Dr. C. Stratakis did at the NIH? Watch the video below.
- https://www.ellines.com/en/famous-greeks/8200-world-leader-in-endocrinology-research/ [↩]