Dr. Amalia Bruni is a neurologist, a world famous scientist. Directs the Regional Center of Neurogenetics of Lamezia Terme. Together with his collaborators, after years of study and research, he discovered the gene responsible for Alzheimer's.
Doctor, when did you realize you were going to be a neurologist?
Actually, I didn't understand that I was going to be a neurologist. I had an unstoppable passion for the study of the brain and for the study of the mind when I was fourteen. I was a scout leader, and I had a squadron with which it was necessary to recover some funds because otherwise the summer camp would not take place; at that time there was the Cultural Services Center which was a very active structure and had to arrange a room full of books. They offered us to do it for a month of work and for fifty thousand lire. By putting these books in place, I found this treatise on psychoanalysis, I borrowed it, read it, devoured it to be exact. It struck me, and I realized that understanding people's thinking and why they behave was something that fascinated me. After high school I had decided to do psychology because the faculty of psychology was born in those years. Then instead by chance, because at the time of enrollment they showed me one door rather than another, I asked for an internship in the school of neurology instead of psychiatry. So it is a total coincidence that I became a neurologist rather than a psychiatrist but, in reality, after some time I realized that the choice was correct and that then dealing with dementia absolutely allowed me to merge the two worlds, of the psyche and of the most organic part, also because our brain is one and it is extraordinary.
She is the director of the Lamezia Terme Regional Center for Neurogenetics. What does it mean to do research in Calabria?
It is a good challenge. It is a challenge that I have been carrying out for many years with great passion. This is an absolutely extraordinary land from the point of view of extraneous pathologies. We are a crossroads of populations that have emigrated over the centuries and each of these populations has left us pieces. Our land of Calabria is stratified in a different way depending on if you proceed from the south to the north so there is no Calabrian DNA. We have been the subject of many immigrations and this has left us with many physical characteristics, let's think about how many people are blondes with blue eyes and therefore absolutely unusual for a southern stretch. However, these immigrations have also left us with particular diseases. Then also the fact that we are very closed, there are still many small isolated villages and also many new immigrants. This will somehow reciprocate our DNA but it has left and leaves very important pathologies to be studied that it is true that they are rare but they are a model of study. Because in science and research, we have to proceed with models. We have to choose what the study model is. By chance I stumbled upon a search that had already started many, many years ago but that had stopped because it had no local connections and concerned some families in which this Alzheimer's disease, which was unknown at the time, we are talking about at the end of the eighties, it had been studied and identified in Paris even in the seventies therefore, in a totally unconscious way. So this was a very adventurous start, very scout style, then slowly the results and important international contacts arrived. In fact, this work was international right from the start and therefore this is perhaps what gave me the strength to move forward in a difficult context.
His studies on Alzheimer's and neurodegenerative diseases have marked an important milestone in this field, recognized by the international scientific community. Do we want to remember your discoveries?
What I became famous for is this isolation of Presenilin 1 which is the major Alzheimer's gene. I have to make a very small digression. Until the early 1s, molecular genetics did not exist, so the study of the genome was something that was not applicable to what were diseases. The first disease that is studied is Huntington's Chorea. This is another form of hereditary dementia that affects young people a lot, among other things in Calabria we have many families who suffer from it. This Huntington's chorea was studied by Ginkgo Sella in Boston. He with these nascent techniques, very new, identified the genetic mutation and therefore this opened an extraordinary door because everyone realized that with the same method they could study different diseases as long as they were in hereditary form. And then the problem was to have huge families, which meant having so many sick people at the time, you had to have at least eleven sick people, it was necessary that these be transmitted from generation to generation, in short, a whole series of characteristics. So the families that I had begun to study, reconstructed with genealogy, with a whole series of very particular techniques also of an archival nature that our land has greatly developed, it was possible to make them the largest families in the world. Therefore on these largest families in the world, it was possible to isolate Presenilin 95 and it would not have happened otherwise. And this happened in 'XNUMX. After five years, always continuing to study these families, because then the part that is important is that of bringing together the clinic with the research and I think that the two aspects cannot be separated, in the most absolute way. By continuing to study this, we have identified this new undiscovered protein in the neuronal membranes that enters the very mechanism of the disease and so this was another important advance. This protein was named, not by me, Nicastrine in homage to the family that is known in the literature as the N family.But the beautiful thing is that we all carry inside our heads. Nicastrine, and therefore also the Japanese also the Moroccans anyone who has a life, even an animal, has a Nicastrina on his head. Then there were many other very important results on other forms of dementia. I followed a huge family for fifteen years, we ruled out maybe twenty-three diseases until we identified this new form which was a spinocerebellar type 17 (SCA17). Then again the fronto-temporal dementias. In all these years we have drawn a genetic geography of these pathologies that are very present in many parts but which here have precisely some peculiar characteristics if we want, also linked to the context and therefore we say it is very important to stay here to study.
What are the differences between dementia and Alzheimer's. How to distinguish them?
Alzheimer's is one of the dementias, dementia is a more general name within which many forms can be found. We are many living beings, my name is Amalia, she is called Paola, everyone has their identity, their causes, etc., their way of being. Today we talk about Alzheimer's disease need Alzheimer's dementia to define as Alzheimer's disease now almost the biological form with very few symptoms and Alzheimer's dementia when the disease has already progressed and therefore there is impaired cognition. I think you will hear about this in the future, in the very near future, because i is coming out new pharmacsi for Alzheimer's disease and biologicals. But these can only be given to patients who are just starting the disease, in the most advanced stages they do nothing and therefore it will be very difficult to understand who develops Alzheimer's disease.
What are the alarm bells to pay attention to?
There are alarm bells. You have to be very good at paying attention to these little alarm bells which then have to be followed by serious visits. A first alarm bell is memory impairment which is a classic that relates to many forms, mostly even of advanced age. While young people with Alzheimer's disease may also have completely different signs, symptoms, which may have nothing to do with classic Alzheimer's disease such as, impaired vision, spatial disorientation, inability to dress incorrectly rather than depressive pictures, apathy, the symptoms are many. It is clear that you are alarmed if you are very familiar, if you have a lot of risk factors or rather if you have an age that is starting to grow and there is a change, in some way, compared to what you were. Notwithstanding that with aging each of us changes because the brain adapts to different situations, aging is a process, it is not a moment, we need to understand when there is physiological aging and when a disease is developing. This is not such a simple thing. So we start from the alarm bells, from something that tends to repeat itself; so it is not a single bell, it is not a single time that the bell has rang but many times, often accompanied by reports from family members who notice that that person is no longer exactly the same, that he is modifying in some way. And then neuro-psychological assessments are needed. It is necessary to do a battery of neuropsychological tests, there are also very refined ones. Then there are also investigations to be done with the markers, so patients should undergo spinal taps to measure for example the beta-amyloid and Tau protein levels because even in patients who are just starting this relationship is altered. There are also other investigations such as positron emission tomography (PET) with both fludeoxyglucose (FDG) and beta-amyloid. For example with the one with the FDG you see a brain that does not feed and therefore those areas become poorly absorbing, with the beta-amyloid instead you see this substance, this beta-amyloid that is deposited in the brains. So if someone is in their fifties and has beta-amyloid in the brain I worry because I'm sure they really have Alzheimer's disease if that is associated with symptoms. But if this man is eighty years old, I may have beta-amyloid stuck in the brain because it is an aging phenomenon and it is not said that if you have beta-amyloid then necessarily you have Alzheimer's, so the situation is very complicated.
Based on the studies conducted to date, is it known whether the external environment and diet affect Alzheimer's?
In this regard, the discoveries of recent years are extraordinary because, it has been seen that if we are able to reduce the cardio-cerebrovascular risk factors, therefore, hypertension, high cholesterol, high triglycerides, diabetes above all, and if we manage to have a high level of schooling and therefore continue to stimulate the brain, exercise, fight obesity, fight smoking and fight alcohol, we have reduced the twenty five percent of cases of dementia around the world. That's a huge amount because dementia is now a real pandemic. The Mediterranean diet and lifestyles are very important to reduce or combat this possibility. We must somehow fortify the brain and body to fight these diseases of aging. There are various tips that can be given, for example learning a little new thing a day; it is very important to study languages, a new language can be a very important stimulus; but also brushing your teeth with your left hand if one is right-handed or vice versa. It's the new things that stimulate the brain and they get cells to activate and make connections. Neurons die because we lose them from XNUMX onwards but the cells that remain make the connections. This, I think is the most important message. We are responsible for ourselves and our health. So it is true that the disease exists but, how this disease evolves, it depends on us, because we can commit ourselves to ensuring there is a quality of life. Socializing with others is also very important, doing a whole range of activities, because being enclosed within four walls is devastating.
What advice do you want to give to family members who live in this situation?
In the meantime, we cannot separate the family member from the patient because he is a dyad, we have to take charge of them together. The family member makes us aware of the patient's life because it is through the family member that we convey a series of messages also for the patient himself, especially when he is in an advanced stage of the disease. Meanwhile, the message is what feelings of guilt must be eliminated, therefore, I am not responsible for the illness of my father, my brother, my brother-in-law, my nephew. Nobody is responsible for the disease. Diseases arrive, but we must realize that we, as family members, have the possibility to improve the quality of life of this person. Lacceptance of the disease goes a long way. Acceptance also means that I am able to talk about my relative's illness on the outside, without stigma, without blaming anything or anyone, without shame. If we can break this down, we can create a good quality of life for the sick. As ministry of health, we have also created guidelines for dementia friendly communities that are beginning to spread in Italy as well. It is necessary to educate, within the neighborhoods, the cities, the small villages. Everyone has to be educated about what it means to have Alzheimer's disease and this concerns the policemen, the traffic police, the school, the children, the teachers. Because? Because in this way sick people can also be free to move and because the person in front of him, if he sees someone who is lost and understands that he has a form of dementia or Alzheimer's disease, knows how to treat him, he knows how to take it. And then this makes a much more emotional world. We must necessarily enter this problem, as a global society, because the millions of patients around the world will never be manageable by any healthcare organization. Doctors play a small part, researchers play a small part, but what must do a great deal are families and society, globally, with the identification of places where patients can meet. The preparation of family members must be done and it is very important and there are and we need psychologists who support family members, psychologists who support patients, serve Alzheimer's cafes, serve day centers, need a lot of work.
You worked as a young man with Rita Levi Montalcini, Nobel Prize for medicine. What relationship did you have?
She was an absolutely extraordinary person. I've actually never worked with Rita Levi. I met Rita at one of her conferences in 1987. Then she came to Calabria several times for a whole series of conferences and, each time, they asked me to pick her up. She discovered the work I was doing on Alzheimer's disease and was amazed at this peculiarity also because this type of work, in the eighties, was unusual. So she bonded with me very much. The relationship between us was more between a scientific mother and a daughter than a relationship of real collaborations. Perhaps she saw herself a little in me. I then realized this after many years because she too had had a very difficult life. He had begun to study his famous chicken embryos under the bed, he had faced great difficulties and perhaps he recognized my difficulties a bit like his own. Ours was a very strong relationship, we really felt very often. As they called her around to talk about topics she didn't care about, she asked me for help in preparing her presentations, her reports. As long as she was there, our life was protected in an extraordinary way.
The Center was also conceived by her, that is, it was she who insisted with Professor Nisticò who was president of the region at the time and told him "Look, this one is going away, she is going too, the red carpets are being made for her everywhere, try to hold her back because the work she is doing is extraordinary". He loved me, ours was truly a particular, emotional bond. Among other things, after many years I had the opportunity to meet one of his nieces who is a doctor. When Rita died I had written an article in a newspaper which was then published and, this niece, telephoned or wrote to me, I don't remember, to say thank you. She was the true friend, she was a person of extraordinary capacity and humanity. In 2007 they decided that this Center had to close because the university is doing research and the Center had no reason to be located inside a hospital. I called her and told her this whole story. Rita had been appointed Senator for life, so she couldn't move at all and so we arranged to do an interview. With a camera and a journalist we went to his house to record this interview and I am moved every time I hear the words he said on that occasion.
In the many trips that you have made for work, you have perceived this attachment of the Italians to their roots?
In principle, absolutely yes. Among the populations most attached to their roots, I find those who emigrated to Australia. But I have seen and continue to see, for example in the Bivongesi, this attachment. Bivongi is a beautiful village next to Stilo, where I studied this particular form of temporal dementia. The Bivongesi are very attached to their country, even three generations away. Every year, except this year for the pandemic, they return to Bivongi and, therefore, the great-grandchildren have the same attachment as their grandparents who left. I have not seen this with other emigrants from other areas of Italy.
Thank you doctor for this interview.
