Numerous creative artists have had their lives marked by illness, such as Johannes Vermeer, Wolfgang Amadeus Mozart, Jane Austen, Franz Schubert and Emily Brontë and Ludwig van Beethoven. The latter experienced health issues in his adult life, including pain and hearing loss, which affected his work and led him to consider suicide.
While books have been written about Beethoven's health based on historical records, researchers are now investigating what his genome (DNA) might reveal about his health conditions.
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An international collaboration studying Beethoven's DNA began thanks to Tristan Begg, a Beethoven fan and a student of biological anthropology at the University of California, Santa Cruz. By acting as a volunteer at Ira F. Brilliant Center for Beethoven Studies, Begg met musicologist William Meredith, starting the project.
It took eight years and the help of several specialists to develop the project until its publication. Begg, now doing a PhD at the University of Cambridge, was the only one to work full-time on the project.
Extracting and analyzing DNA from human remains is a complex process, but technical advances have boosted the study of ancient DNA. Although teeth and skull bone are the best sources of human DNA, these parts were not available from Beethoven. However, there was hair, as collecting locks from famous people was common at the time.
Rootless hair is a less tractable source of DNA, with short and degraded sequences. Using specialized software, it is possible to meticulously assemble these sequences and build as much of a complete genome sequence as possible.
The study used fragments of eight tufts of hair attributed to Beethoven, originating from different sources. Five of them contained DNA from a man whose data match the time of the early 19th century.
Collaborating with FamilyTreeDNA, it was possible to trace the individual's lineage back to western-central Europe. The team believes this is indeed Beethoven, as some samples have continuous source records going back to the 1820s. The genetic compatibility between the samples and the solid documentation of the origins reinforce this hypothesis.
The other three locks showed genetic differences, including one from a woman, with no clear information on how they were linked to Beethoven.
One of the wicks erroneously attributed to Beethoven was used in earlier studies that suggested lead poisoning. However, recent findings indicate that this conclusion is no longer valid. The eighth lock of hair contained little DNA, making it impossible to confirm its authenticity.
Research has not identified a genetic cause for Beethoven's most famous health problem, hearing loss. However, he faced other health issues like gastrointestinal issues and liver disease.
Genetic analysis did not reveal predisposition to specific gastrointestinal conditions, but pointed to genetic variants associated with liver cirrhosis and hemochromatosis.
Beethoven also contracted hepatitis B in the last months of his life. Alcohol consumption may have aggravated your liver condition. Although his alcohol consumption was common for the time and region, it may have been at levels considered harmful.
When examining Beethoven's genome and trying to link him to living relatives, the researchers focused on the Y chromosome, inherited only through the male line. Five men with the surname Beethoven provided DNA samples, sharing the same Y chromosome, coming from a common ancestor, Aert van Beethoven.
However, the Y chromosome in the locks of Ludwig van Beethoven's hair was distinctive, suggesting that somewhere between the seven generations of the family, someone's father was not his biological father. The generation in which this occurred cannot be determined based on the available evidence.
Source: The Conversation