Dupuytren’s contracture, or palmar fibromatosis, is one of the most common hand deformities that leads to loss of control over the movement of some fingers. It has been known for a long time, but only recently have molecular biologists discovered that its development is linked to 61 small mutations in DNA, three of which were inherited by Europeans from Neanderthals. The scientists’ article was accepted for publication in the journal Molecular Biology and Evolution.
The researchers note that Dupuytren’s contracture is much more common among Europeans, especially among the inhabitants of Scandinavia, where the proportion of carriers of the disease may be as high as 30% among older people. This has sparked the interest of scientists in studying the mechanisms of the disease and searching for mutations associated with it.
The genetic legacy of Neanderthals
Deciphering the genome of Neanderthals, conducted in 2009 by a team of scientists led by 2022 Nobel Prize laureate Svante Paabo, showed that Neanderthals repeatedly came into contact with our ancestors, leaving about 2-4% of their genes in our DNA. Some of these genes helped our ancestors adapt to life in the north, while others made their carriers vulnerable to coronavirus infection.
Researchers studied the DNA structure of more than 7,800 Dupuytren’s contracture carriers and more than 645,000 healthy European residents who participated in the UK Biobank, MGI and FinnGen R7 genetic databases. The researchers compared sets of several million small mutations in the DNA of healthy and sick volunteers, which allowed them to identify variations in the genome structure associated with the disease.
In total, the scientists were able to identify 61 small mutations that somehow increased the risk of developing Dupuytren’s contracture. Three of them were inherited by the ancestors of modern Europeans from Neanderthals, including the second and third most common among all the carriers of palmar fibromatosis studied.
Disease and heredity
Dupuytren’s contracture is 80% hereditary. The large number of carriers in northern Europe, as well as the low prevalence of the disease in Africa and China, led the authors of the paper to believe that the disease might be caused by genes inherited by European ancestors from Neanderthals.
As the researchers point out, these three mutations are rarely seen in people in Africa and China, but they are particularly common in the DNA of residents of Scandinavia and other parts of northern Europe. The authors of the new work believe that this explains why the number of Dupuytren’s contracture carriers varies markedly in Europe and in other regions of the Earth.
According to Peter Donald, professor of genetics at the University of Oxford, the findings provide a better understanding of the heritability of Dupuytren’s contracture and other genetic diseases. “This is a new example of how our DNA can reflect our evolutionary history and how genes inherited from Neanderthals can affect our health,” he said.
In summary, Dupuytren’s contracture, or palmar fibromatosis, is one of the most common hand deformities that occurs most frequently among Europeans, especially Scandinavians. Recent studies have shown that its development is linked to 61 small mutations in DNA, three of which were inherited by Europeans from Neanderthals. This supports the theory that the genetic legacy of Neanderthals still affects the health of modern humans.