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Diagnostics Genetics and epigenetics, Technology and innovation

Hitting the Right Note

Beethoven portrait (1820) romanticism oil painting by Joseph Karl Stieler sourced from

Liver cirrhosis, deafness, and gastrointestinal problems were just a handful of health complications suffered by Ludwig van Beethoven, legendary German composer and pianist of the classical period. In a document now known as Heiligenstadt Testamen, he implored his physician to unravel the complexity of his declining health. His one request? To share the diagnosis with the world when he passed. Over the years, researchers have strived to honor his wishes, and presented hypotheses – such as coeliac disease, lactose intolerance, and lead exposure – all of which have been debunked. 

A study led by The University of Cambridge conducted the first-ever genomic analysis on preserved locks of Beethoven’s hair, where significant genetic risk factors for liver disease were revealed. Further, metagenomic analyses showed a hepatitis B infection that – paired with excessive alcohol consumption – likely contributed to his death (1). 

Although researchers did not find a predisposition to his hearing difficulties or gastrointestinal ailments, Axel Schmidt, co-author of the study, said “reference data – which are mandatory to interpret individual genomes – are steadily improving. It is therefore possible that Beethoven’s genome will reveal hints for the cause of his hearing loss in the future (2).” 

Instead, they made a serendipitous discovery. The Y-chromosome found in Beethoven’s genome was compared to Y-chromosomes sequenced from five living Van Beethoven males – and were found to be very different. It was concluded that an “extra-pair-paternity event” – or illicit liaison – had likely occurred in the patrilineal ancestry. Whether it was his father, or an ancestor in the line seven generations removed, I know it was the last thing I was expecting to find out!

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  1. T J A Begg et al., Curr Biol, 33, 1431 (2023). PMID: 36958333
  2. University of Cambridge (2023). Available at: 
About the Author
Georgia Hulme

Associate Editor for the Pathologist

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