Huntington Disease. A rare genetic disorder, an example of social injustice
Written by Ferdinando Squitieri, President and Scientific Director of LIRH – Italian League for Research on Huntington and related disease (www.lirh.it) – June 2013
The cause of the disease
Huntington’s disease and ‘a hereditary degenerative disease is very serious and complex that primarily affects the nervous system, but not only, also muscles and other organs are affected so it is more correct to define it as a systemic disease . Today we know the genetic cause, we are able to reproduce in laboratory animal models, we know better the multiple biochemical events that underlie it and see closer care. A single gene and it ‘responsible, with stretch of DNA more extensive than necessary, it generates a protein with a high number of defined amino acids glutamine, or, in technical jargon,’ Q ‘. More are the ‘Q’ transmitted by the sick parent, before the disease occurs in children . Are only now beginning to define the multiple clinical variants of the disease and we can locate its presence in almost all the peoples of the world and in all races.
“That disorder” (the evil): discrimination has distant origins
Despite this huge gain knowledge, Huntington’s disease has not, however, undressed wearing apparel perhaps at least two thousand years, when the ‘Q’ inside that gene were already too many and toxic and attributed, even then The role of disease and discriminated against unspeakable, so let it be defined by the common people, in 800, as “that disorder – that evil.” Before the clearest and most known description in 1872 of an American doctor from Long Island, near New York , named George Huntington in a scientific journal of the time in an article entitled “On chorea”, the disease had connotations unclear in which the elements that characterized it were involuntary movement like a dance uncontrollably (for which the name chorea from the greek ) and the mental disorder. It is said that the first descriptions of involuntary movements dating back to the Holy Scriptures , when some miracles are reported from the Bible to people maybe suffering from this evil. The first, perhaps, to give an initial description was an eccentric man who called himself Paracelsus , rather arrogant and unconventional, that at the beginning of 1500, recognized it as a possible disease. Subsequently the typical choreic involuntary movement takes various names depending on the location in which it is described: “St. Joh’s or St. Vitus’ Dance” in Germany, “Dance de St. Guy” in France, or from the Latin, “Chorea Sancti Viti” , this last name perhaps the best known of all. Then assumed other titles between 1500 and 1800 including “Tarantismo” , probably from the dance of Italian origin in Lecce called ” Taranta “, as reported by the Canadian neurologist Andre Barbeau, in an article published in 1958 in the Journal of Nervous and Mental Disease . Historical reconstructions of families subsequently described by George Huntington, who emigrated from England to the United States, report the presence of sick of Korea since 1600 . ‘s description Vessie of 1932 tells of emigrants English English of the County of Suffolk whose families tried to escape to one of the most popular sports of old England, the ‘witch hunt’ . It is certain that entire families Englishmen, whose descendants were later described as suffering from the disease by George Huntington to the 800, were persecuted for witchcraft, imprisoned and held to bring mental disorders. Descendants of these families, landed in the United States in 1630 aboard the vessel John Winthrop, certainly had a similar treatment. Coreiche the contortions of the body, typical of the disease, were considered the result of the expression of the devil beast. ignorance rampant spasms induced by the thought that the body would be regarded as a kind of representation of Christ’s suffering during the crucifixion . As a result of the genetic nature of evil, then certainly not interpreted according to scientific rules, discrimination was addressed not only to those who suffered from it, but the whole family to which they belong. Therefore, the disease was unmentionable and held up, by the American Society 800 bigoted, biased and puritanical, just as “that disorder – that evil.”
The knowledge of the disease
George Huntington learned to know the disease as a child, learning the first impressions from the doctor father and described for the first time at the age of 22 years comprehensive synthesizing the three fundamental points: 1) the
tendency to suicide and mental disorder 2) heredity 3) the character progressively disabling . The description by George Huntington vehicle will knowledge in civil society because he was lucky enough to be translated into German. This allowed them to spread the name and the main clinical features, but did not represent protection from social discrimination.
Racism and discrimination continue in our century
Infamous edict of 1933 of the Third Reich in Nazi Germany shows that, alone among the neurological disorders, including conditions, along with schizophrenia, for which it sought the sterilization forced way. Across the ocean, an American doctor named Davenport, even in the era before, reserved, those suffering with chorea, racist remarks equally discriminating.
The discovery of the gene (through the study of a Venezuelan family and a Neapolitan)
The real gain of knowledge must be the identification of entire families affected by the disease in some particular parts of the world that has led to the subsequent discovery of the gene responsible and the cause. The most prominent cluster of patients with Huntington’s chorea is in the area of Maracaibo, Venezuela, where he currently resides a family of sick of approximately 14,000 people . The origin of the spread of the disease in this area is due to a European sailor who landed on the north coast of Venezuela in the early 1800s, in a fishing village in the state of Zulia. Since then the disease, genetics and transmitted to the children in dominant form, has spread in that area causing a destruction of that population. Almost every family of poor fishermen in one of the most neglected areas of the earth, is home to one or more people with Huntington’s disease. Since 1979, a shipment of doctors and researchers from the United States began to study and analyze the cases of Korea before reaching the goal of identifying the chromosomal region in 1983 and then the gene responsible for the disease in 1993. It is the enormous contribution that their population has given to scientific research on the disease and is relevant, how little known, which has contributed to the discovery of even a family of Italian origin, resident in Naples, followed by Italian researchers and described for the first time in 1992.
Increased knowledge is not “equal to” less discrimination
From the identification of the genetic cause now the gain of knowledge was enormous, genetic testing allows the recognition of the disease and its cause even before the onset of symptoms and many of the biochemical mechanisms that account for the biological origin of evil are known. Today a formidable task force unites researchers and specialists from around the world in the fight against disease and many potential new drugs are being tested or are in the process of being tested and represent a valid hope for families around the world. Organizations, researchers and patients devote energies to the fight against this devastating disease and in the meantime still fight against discrimination in society is too judgmental and ignorant.