Subscribe to Newsletter
Diagnostics Genetics and epigenetics, Technology and innovation

Hitting the Right Note

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

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!

Receive content, products, events as well as relevant industry updates from The Pathologist and its sponsors.
Stay up to date with our other newsletters and sponsors information, tailored specifically to the fields you are interested in

When you click “Subscribe” we will email you a link, which you must click to verify the email address above and activate your subscription. If you do not receive this email, please contact us at [email protected].
If you wish to unsubscribe, you can update your preferences at any point.

  1. T J A Begg et al., Curr Biol, 33, 1431 (2023). PMID: 36958333
  2. University of Cambridge (2023). Available at: https://bit.ly/48Tmv1h 
About the Author
Georgia Hulme

Associate Editor for the Pathologist

Register to The Pathologist

Register to access our FREE online portfolio, request the magazine in print and manage your preferences.

You will benefit from:
  • Unlimited access to ALL articles
  • News, interviews & opinions from leading industry experts
  • Receive print (and PDF) copies of The Pathologist magazine

Register