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Massimo, Alessandro, you've been doing some really cutting-edge research, you've been sequencing Cangrande's genome.
Today, scientists use genomic sequencing to analyse living patients DNA for mutations that cause diseases or specific health conditions.
We analysed the genome to see if there were variants or mutations, something that could explain some predisposition to a disease.
They found two genetic variants within a chromosome, indicating a very rare inherited disease.
We are confident that Cangrande got both the wrong copies, one from the father and one from the mother. He has been very unlucky.
The name of the disease is Pompe Disease for the infantile form, and then it is Glycogenosis Type 2 for the adults.
Pompe Disease or Glycogenosis Type 2 is a rare genetic disorder in which the body is unable to break down a complex sugar called Glycogen.
This affects organs and tissues, particularly muscles. Pompe Disease often kills in childhood, but it can develop later, as it may have done with Cangrande. In adults, it can also cause severe breathing problems and an irregular heartbeat.
Is that why he might have been given Digitalis?
Digitalis has been found to have a chronotropic and inotropic effect on the heart.
So, it's affecting the heart rate?
Yes, reducing the heart rate.
Modern doctors now use Digitalis to treat heart problems. We don't know if Cangrande's doctor used it. If so, he might have been ahead of his time. But Alessandro believes its presence shows an attempt to treat a man who was dying from his condition anyway, and that its presence wasn't malicious.
Cangrade was killed by a respiratory crisis due to his disease, Glycogenosis Type 2.
So, the adult onset of Pompe Disease.
Yes, no doubt about that, he was going to die of his disease.
That was completely fascinating for me, really cutting-edge science that you couldn't do even just a few years ago. And what came out of it is that Cangrande’s got quite a serious underlying genetic condition, but he's also got this Foxglove in his system. So, the question is, did somebody hurry along his death or was it a medical mistake?
To try to answer this question Turi wants to find out how much Digitalis was in his system. Was it enough to kill him? She's meeting toxicologists Professor Federico Bortolotti. Federico’s team put samples of Cangrande's liver and faeces through a process of centrifugal analysis.
We found glycosides, and the concentrations we found were around some tens of nanograms per gram.
Glycosides are drugs or poisons which can be derived from plants.
These drugs can help the heart to pump the blood. The problem is therapeutic concentrations, and the toxic concentrations are very close. These are concentration are in the toxic range. This finding brought us to hypothesise that the cause of death of Cangrande could be an acute intoxication caused by Foxglove toxins.
How sure are you that Foxglove is what killed Cangrande?
I personally? Pretty sure.
Representation: www.josarsby.c...
29 сен 2024
