what is it and what does it have to do with Neanderthals – breaking latest news

Among the populations of Northern Europe it seems to occur to a greater extent, so much so that it has been renamed the Viking disease. But also note how coachman’s disease, because Baron Guillaume Dupuytren was the first to describe in The Lancet in 1834 the contracture of the hands caused by the pathology noted precisely on his coachman who worked three years earlier. Let’s talk about Dupuytren’s disease, a chronic and disabling pathology that mainly affects males between the ages of 50 and 70 and which represents the most common cause of hand deformities.

Not a study published in Molecular Biology and Evolution
sheds light on what may be the genetic origin of the disease. A group of researchers from the Karolinska Institutet in Stockholm (Sweden), the Max Planck Institute in Munich (Germany) and the University of Michigan (USA) – including the geneticist and Nobel Prize for Medicine in 2022, Svante Pbo – they found that the main genetic risk factors of the pathology would be inherited by Neanderthal.

what is

It is a benign palmar fibromatosis – explains Massimo Del Bene, director of the Complex Structure of Plastic Surgery and of the Hand Foundation Irccs San Gerardo dei Tintori of Monza – For various reasons, the palmar fascia can thicken, generating nodules or cords and even withdraw, causing a finger retraction. The locations are: the palm of the hand; the sole of the foot
(Ledderhose disease affecting the plantar fascia and highly recurring); the penis (De La Peyronie’s disease, which flexes the penis in an irrepressible way so that it no longer extends with an erection). Juvenile ones are very aggressive and the possibility that the disease will return after surgery is very high.

The illness it affects men much more and women less and in women in a more aggressive form which also affects the skin of the hand and not just the part of the palmar fascia, adds the expert. In humans it is also said to be more frequent not only for genetic reasons but also because he usually does heavier workwhereby all microtraumas on the palm ultimately lead to the development of this disease within the palmar fascia.

What are the symptoms

Symptoms? First of all it never gives pain and this is the reason why patients arrive late to the diagnosis. – replies Del Bene -. It can be used the so-called table test: you place your hand on the table and if all five fingers and the palm do not touch it but remain curved, it means that they are flexed and no longer extend properly. It is not widely used because in the end we surgeons identify it with a visit. a disease that tends to recur, but the more one operates at an advanced age, the less recurrence. This is probably because the cell proliferation in the organism goes towards minor senility.

Unpredictable disease: it can remain silent for as many years as it can progress at great speed. First part with an isolated nodule on the palm of the hand (grade 0-1). Then perhaps the nodules become 2 or 3, then the disease becomes grade 2 or 2 up to grade 5 where the finger so flexed that the fingertip touches the palm of the hand and no longer extends. All patients report that with flexed fingers they can no longer put their hands in their pockets and when you wash your face your fingers are no longer controllable and it becomes almost impossible.

The possible remedies

What can be done? The first choice is surgery. The classic intervention l’aponeurectomia radical which consists in removing, partially or completely, the palmar fascia with the aim of recovering the extension of the fingers – explains Del Bene – . He has a quite long postoperative course, on the order of a few months, and a bit complicated. If, on the other hand, we have highlighted cords, which can be seen and felt in the fourth and fifth toe, one can perform a percutaneous cordotomy: in practice with a needle under the skin cords are interrupted. It is done on an outpatient basis, a 5 minute procedure and the results are fantastic because the fingers re-extend immediately. The post-operative course is much simpler and it is highly advisable as you age, moreover it can be repeated because it is not invasive like radical aponeurectomy.

Are there other options? Another option the chemical chordotomy with substances such as Xiapex, a weakened toxin of the Clostridium bacterium – the same as botox or tetanus – but Histolyticum because it disrupts the cell. In Italy we have used it for some time but then for various reasons, including the economic one due to the costs becoming prohibitive, it was eliminated from the pharmaceutical handbook. How does it work? This substance is infiltrated at the level of the cord, one waits 24 hours and then, still under anesthesia, the cord is broken and it is “smooth”. There are complications, at the beginning there were episodes of flexor tendon rupture or skin necrosis. Now there is another substance, il Vibrio Alginolyticus, but still in phase III clinical trials. Some centers in Italy are authorized to use it only with selected patients and we will see how it goes.

The cause

The causes of Dupuytren’s disease are still unknown and being studied: genetic, metabolic, mechanical and pharmacological factors are hypothesized. Epidemiological studies indicate that there is a genetic predisposition: A Danish twin study reported a heritability of 80%, thus indicating a strong genetic influence. The condition is much more common in people of Northern European descent.

Another study then estimated the prevalence of Dupuytren’s disease among Norwegians over the age of 60 it is as high as 30%. The condition is rare, however, for those of primarily African ancestry. There are geographic differences in the extent of genetic ancestry that connects today’s humans to now extinct groups. People from Africa south of the Sahara have few Neanderthal or Denisovan ancestry, who lived in Europe and Asia until at least 42,000 years ago. In contrast, people with roots outside Africa inherited up to 2% of their genome from Neanderthals, and some populations in Asia today have up to 5% Denisovan ancestry.

Genetic variants and risk factors

Given these regional differences, archaic genetic variants may contribute to characteristics or diseases found primarily in certain populations. Given the prevalence of Dupuytren’s disease among Europeans, researchers here investigated its genetic origins. They used data from 7,871 cases and 645,880 controls from UK Biobank, FinnGen R7 Collection and Michigan Genomics Initiative to identify genetic risk variants for Dupuytren’s disease.

They found 61 significant genome-wide variants associated with Dupuytren’s disease. Further analyzes showed that three of these variants are of Neanderthal origin, including the second and third most strongly associated. The discovery that two of the most important risk factors genetics for Dupuytren’s disease are of Neanderthal origin leads scientists to conclude that Neanderthal ancestry is a significant factor in explaining the prevalence of the disease in Europe today. This is one case where encounters with Neanderthals affected disease sufferers, said the paper’s lead author, Hugo Zeberg, of Karolinska’s Department of Physiology and Pharmacology, although we shouldn’t exaggerate the connection between Neanderthals and Vikings.