Next-generation sequencing of mummified remains of 14th century Italian nobleman detects first known case of Pompe disease

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Science can sometimes solve historical puzzles, such as the one surrounding the death of Alberto Canfrancesco della Scala, Lord of Verona and protector of Dante. He died in 1329 at the age of 38, a few days after his victorious entry into Treviso. The few writings available report nausea and diarrhea in the hours before his death. 

  • in 2004, the analysis of his mummified remains found traces of digitalis in toxic doses, which led to the conclusion, at the time, of poisoning; 
  • in 2021, next-generation sequencing of the exome of its DNA, extracted from bone tissue, identifies two pathogenic variants in the GAA gene, a genotype associated with the late form of Pompe disease (or type II glycogenosis).

Digitalis could have been used for therapeutic purposes, to treat heart disease, rare but possible in this form of the disease.

 

A medieval case of digitalis poisoning: the sudden death of Cangrande della Scala, lord of verona (1291–1329). Fornaciari A, Brocco G, Tagliaro F, et al. J. Archaeol. Sci. 2015;54:162–167.

 

Whole-exome sequencing of the mummified remains of Cangrande della Scala (1291-1329 CE) indicates the first known case of late-onset Pompe disease. Iadarola B, Lavezzari D, Modi A et al. Sci Rep. 2021 Oct 26;11(1):21070.

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