In 1653, in the English colonies of New England, Ellin, wife of Nickolas Haste, was wrongly tried and sentenced to hang for witchcraft. At least seven women like her, also considered witches, suffered persecution. Possibly all of them came from families that a few decades earlier had brought Huntington’s chorea to the New World, a hereditary neurological disease that manifests itself by uncontrollable erratic movements and that can end the life of those who suffer from it. Diseases become cruel when they are inherited.
When in 1630 King Charles I of England allowed the Anglican Church to persecute non-believers and nonconformists, the hunt for witches and those who, because of their motor impairments, seemed to have collusion with the devil, became a sacred duty of the population. This forced many families suffering from Korea to flee to America. One of them was that of John Winthrop, who in 1630 set sail with eleven ships from the port of Yarmouth in England to Salem, in Massachusetts. Thus, the genes of Huntington’s chorea leapt to the New World, where, unfortunately, its possessors were also persecuted for similar reasons, that is, for puritanism and intolerance. But Huntington’s chorea was not only an English disease, as it had also affected human groups in other parts of Europe, such as France, Ireland, Germany and Norway.
The disease owes its name to the American doctor George Huntington, who studied patients whose families had suffered from it in successive generations and described it in 1872, noting its highly hereditary nature, its symptoms coinciding with other choreas, although of greater and progressive severity, its greater prevalence in men than in women, its tendency to suicide and its consideration as very serious only in adults. Now we know that chorea or Huntington’s disease is a 100% heritable disease, which generally begins between the ages of 35 and 42, and can lead to personality changes, such as depression, loss of attention, irritability and aggression, as well as impairments. memory when the disease progresses.
Unfortunately, even dementia can reach patients over the years, because, in addition to a wide loss of neurons and degeneration in the nuclei inside the brain related to the control of automatic movements (striated nuclei, caudate and putamen), the The disease can also cause loss of neurons in the cerebral cortex, particularly in the frontoparietal cortex, which explains the late symptoms of dementia in patients. The responsible for all this is a well-known gene (an autosomal dominant gene) that expresses and forms modified proteins that are grouped into balls or aggregates between neurons (similar to what happens in Alzheimer’s disease) that end up destroying them, thus originating the difficulties of the patients to control their movements. For now, the disease has no cure, and can end the life of the patient.
But the scientific community is hopeful, because this situation may change thanks to work such as the one that researchers from the international pharmaceutical company Charles River have been developing for a long time, whose therapeutic approach has focused on designing small molecules (generally nucleic acids such as RNA, DNA) that can adhere to the gene that causes the disease, thereby preventing the expression and formation of said proteins and their aggregates. Although the first clinical trials have not yielded the expected results, recently, a new work by a large group of researchers (among which there are several Spanish names), carried out in collaboration with a private organization dedicated to the development of therapeutic procedures for the disease of Huntington (Cure Huntington Disease Initiative), has described and published in the Journal of Medicinal Chemistry, a new class of small inhibitory molecules that have already shown the ability to mitigate disease in animal models.
As in previous experiments, what the researchers want to achieve with these new molecules is that the protein aggregates that kill neurons cause the disease are not formed. They already have several candidate molecules that are about to be pre-clinical tested in patients. According to Diana Miszczuk, associate director of Central Nervous System Pharmacology at Charles River, and her colleagues, for whom many patients end up becoming friends, this is still the beginning, but the work being done and the results are promising. Facing an entire family carrying Huntington’s disease genes is dramatic for therapists when they cannot offer them any hope of cure, but what now comforts us is knowing that doors are opening to make that hope a reality.
Ignacio Morgado Bernal He is Emeritus Professor of Psychobiology at the Institute of Neurosciences and at the Faculty of Psychology of the Autonomous University of Barcelona. Author of Gray Matter: The Gripping Story of Brain Knowledge (Ariel, 2021).
Gray matter it is a space that tries to explain, in an accessible way, how the brain creates the mind and controls behavior. The senses, motivations and feelings, sleep, learning and memory, language and consciousness, as well as their main disorders, will be analyzed in the conviction that knowing how they work is equivalent to knowing ourselves better and increasing our well-being and relationships with other people.
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