Famous Musician Cause of Death Revealed - Through DNA

I'm going to open this week with a case a 56 year old musician presents with diffuse abdominal pain cramping and jaundice his medical history is notable for years of abdominal complaints characterized by disabling bouts of diarrhea in addition to the jaundice this acute illness was accompanied by fever as well as edema and the patient underwent several abdominal paracenteses to drain excess fluid one Consulting physician administered alcohol to relieve pain to little Avail and the patient succumbed to his illness an autopsy showed diffuse liver injury as well as papillary necrosis of the kidneys notably the nerves of his auditory canal were noted to be thickened along with the Bony part of the skull consistent with Paget's disease of the bone and explaining potentially why The Talented musician had gone deaf at such a young age an interesting note on social history the patient had apparently developed some feelings for the niece of that Doctor Who prescribed alcohol her name was Therese perhaps mistranscribed as Elise and it seems he may have written this song for her this week we unravel The Curious Case of Ludwig van Beethoven thanks to Modern DNA extraction techniques genome-wide Association studies and eight locks of hair [Music] we're talking about this paper in current biology by Tristan Begg and colleagues which gives us a look into the very Genome of what some would argue is the world's greatest composer the ability to extract DNA from older specimens has transformed the fields of anthropology archeology and history and perhaps now musicology as well the researchers identified eight locks of hair in private and public collections all attributed to the Maestro four of the samples had an intact chain of custody from the time the hair was cut DNA sequencing on these four and an additional one of the eight locks came from the same individual a male of European heritage the three locks with less documentation came from three other unrelated individuals interestingly analysis of one of those hair samples the the so-called Hiller lock had shown high levels of lead leading historians to speculate that lead poisoning could account for some of Beethoven's symptoms DNA analysis of that hair reveals it to have come from a woman likely of North African Middle Eastern or Jewish ancestry so we can no longer presume that plumbism was involved in Beethoven's death Beethoven's ancestry turns out to be less exotic and Maps quite well to ethnic German populations today in fact there are van Beethoven's alive as we speak primarily in Belgium genealogic records suggest these van beethovens share a common ancestor with the virtuoso composer a man by the name of IRT von Beethoven but the DNA reveals a scandal the why chromosome Beethoven inherited was not eritvan Beethoven's question of Beethoven's paternity have been raised before but this evidence strongly suggests an extramarital paternity event at least in the generations preceding his birth that's right Beethoven may not have been a Beethoven with five locks now essentially certain to have come from Beethoven himself the authors could use DNA analysis to try to explain three significant health problems he experienced throughout his life and death his hearing loss his terrible gastrointestinal issues and his liver failure let's start with the most disappointing results explanations for his hearing loss no genetic cause was forthcoming though the authors note that they have little to go on with regard to the genetic risk of otosclerosis at least to which is hearing loss has often been attributed lead poisoning is of course possible here though this report focuses only on genetics there was no testing for lead and as I mentioned the lock that was strongly LED positive in Prior studies is almost certainly inauthentic what about his lifelong GI complaints well some have suggested celiac disease or or lactose intolerance as explanations and these can essentially be ruled out by the genetic analysis which shows no risk alleles for celiac disease and the presence of the lactase persistence Gene which confers the ability to metabolize lactose throughout one's life now IBS irritable bowel syndrome is harder to assess genetically but for what it's worth he scored quite low on a polygenic risk score for the condition in in just the ninth percentile of risk we should probably be looking elsewhere to explain the GI distress now the genetic information bore much more fruit with regards to his liver disease remember Beethoven's autopsy showed cirrhosis his polygenic risk score for liver cirrhosis puts him in the 96th percentile of risk he was also heterozygous for two variants that can cause hereditary hemochromatosis the risk of cirrhosis among those with these variants is increased by the use of alcohol and historical accounts are quite clear that Beethoven consumed more than his share but it wasn't just Beethoven's DNA in these hair follicles analysis of a follicle from later in his life revealed the unmistakable presence of hepatitis B virus endemic in Europe at the time this was a common cause of liver failure and is likely to have contributed if not directly caused Beethoven's demise it's hard to read these results and not Marvel at the fact that two centuries after his death our fascination with Beethoven has led us to probe every corner of his life his letters his writings his medical records and now his very DNA what are we actually looking for is it relevant to us today what caused his hearing loss his stomach troubles even his death will it help any patients in the future I propose that what we are actually trying to understand is something ineffable Genius of magnitude that is rarely seen in one or many lifetimes and our scientific tools as sharp as they may have become are still far too blunt to probe the depths of that Transcendence in any case friends no more of these sounds let us sing more cheerful songs more full of joy for Medscape I'm Perry Wilson [Applause] [Music]

Channel: F. Perry Wilson, MD

Views: 1,576

Keywords: Medicine, Science, Health, News, Epidemiology, Statistics, Perry Wilson, Methods Man, Yale, Critical Thinking, Doctor, Physician, MD, Scientist, Research, Researcher, family tree, dna test, beethoven, composer, dna, hair, hiller lock, lead, ibs, lactose intolerance, hepatitis, hepatitis b, dna test results

Id: RU7i_vpxRYs

Length: 6min 45sec (405 seconds)

Published: Wed Mar 22 2023