An international research group of scientists has discovered a genetic mutation linked to iEarly onset of a rare form of Alzheimer’s, which has been traced in the DNA of several members of the same family.
Me study was published in the scientific journal Science Translational Medicine.
Rare form of Alzheimer’s before age 40: here’s what the research says
Alzheimer’s disease is known as a disease that brutally preys on memories and destroys the sense of self. Most cases arise sporadically, emerge after the age of 65, turning the golden years into a nightmare, both for those affected by the disease and for the family members involved.
Aside from Alzheimer’s dementia which starts sporadically in old age, there are insidious family forms that begin years or decades earlier. Early onset refers to Alzheimer’s starting before age 65.
To make matters worse, an international team of scientists, led by neurobiologists in Sweden, has identified a rare form of Alzheimer’s that has only been found in one family to date. This rare form of Alzheimer’s is aggressive, rapid, and steals its victims’ most productive years by compromising their cognitive functions.
Scientists have named this rare form of Alzheimer’s
there deletion of the Uppsala APP, in honor of the family which is unfortunately marked by this error of the DNA which invariably causes the descent into dementia at a young age.
“Individuals with colopitis are 40 years old at the onset of suntomas and suffer from a rapidly progressing disease course“, has stated Dr. María Pagnon de la Vega. Together with his colleagues from the Department of Public Health and Nursing Sciences at Uppsala University in Sweden.
Pagnon de la Vega has collaborated with a large team of neuroscientists, structural and molecular biologists, and imaging experts across Europe.The team used the most advanced tools to identify a defect that plays a major role in the fate of a family.
The researchers found out that the mutation accelerates the formation of brain-damaging protein plaques known as beta amyloid or simply as Aβ. The plaques destroy neurons and, as a result, nullify the executive functions of the brain itself. Neuroscientists basically define executive functions as working memory, mental flexibility, and self-control.
Other forms of Alzheimer’s have been linked to mutations in the APP gene, but this is a deletion that Pagnon de la Vega and colleagues confirmed through genetic analyzes, structural biological research, amino acid and protein chemistry studies, and mass spectrometry to characterize amyloid, the deleterious protein that pervades the tissue. brain of mutation carriers.
In the case of the carriers, they all had a deletion in a specific string of amino acids that are part of the amyloid precursor protein.. Amino acids are missing. The lack of amino acids is due to the fact that the APP gene in this Swedish family does not encode them. In numerical terms, the deletion eliminates a band of six amino acids, resulting in destructive deposits of protein Aβ throughout the brain.
The story of the rare form of Alzheimer’s involving the Swedish family began seven years ago in Sweden when two brothers went to a memory disorder clinic at Uppsala University Hospital, where they were evaluated for problems. of memory, losing their sense of direction and feeling as if their mental acuity was eluding them. Aged only 40 and 43 at the time, the brothers, sadly, weren’t the only ones whose minds were confused and unraveling. Another relative their age was experiencing nearly identical symptoms.
A cousin went with his siblings to the same memory disorder clinic to evaluate cognitive problems that were stealing memory, stifling the inability to speak in clear, thoughtful sentences, and obliterating the ability to perform simple calculations. All three were diagnosed with early-onset Alzheimer’s disease. Yet this trio wasn’t alone in familial cognitive decline.
Doctors had treated the two brothers’ father two decades earlier. He was also in his 40s when symptoms first emerged. Doctors evaluated the father at the same memory disorder clinic where his children had become ill with Alzheimer’s.
By the time the two brothers and their cousin arrived at the memory disorder clinic, they were all severely symptomatic. They had trouble speaking and had lost the ability to perform simple calculations.
Doctors have also determined that they were clearly having problems with executive function, and brain scans revealed the hallmarks of Alzheimer’s in all three. Brain scans revealed evidence of atrophy in the frontoparietal and mid-temporal regions of the brain. Scores on the Mini Mental State Examination, an assessment frequently administered to older adults to test cognitive abilities, were not only low, but were in a range usually seen in older adults with cognitive disabilities. Everyone was still in their forties at the time of the test.
Pagnon de la Vega and colleagues define this form of Alzheimer’s disease as autosomal dominant, passed on from generation to generation and rapidly moving downhill. There is no data to suggest that other families carry the Uppsala APP deletion, although other forms of familial Alzheimer’s have been identified in Sweden.
“Symptoms and biomarkers are typical of Alzheimer’s disease, with the exception of normal cerebrospinal fluid“, Explained Pagnon de la Vega, the first author of the study, referring to the deletion of the Uppsala APP.
Prior to the discovery of the deletion, more than 50 other APP gene mutations had been identified worldwide and are associated with the early onset of Alzheimer’s. APP mutations, in general, are responsible for less than 10% of all early-onset cases. The Uppsala APP deletion is the first deletion of multiple amino acids that leads to the early onset of Alzheimer’s.
Sporadic or genetic Alzheimer’s disease has no cure and is responsible for $ 355 billion in total costs annually in the United States alone, according to data from the Alzheimer’s Association.
Unless a cure is found, the ailment is expected to overwhelm global health systems by 2050 due to the inexorable aging of the population, according to the World Health Organization.
Rare form of Alzheimer’s in Italy: here is the latest information
According to Telethon: “Among the risk factors hypothesized for the most widespread form sporadic of the disease there are head trauma, hypertension, high cholesterol, obesity, but also genetic factors such as some variants of the sortilin 1 gene or a particular form of apolipoprotein E (E4) “.
“As regards in particular the familial forms, three genes have been identified associated, when altered, with the onset of the early forms: presenilin 1, presenilin 2 and amyloid precursor protein (APP), all involved in the formation of amyloid. Still little known, however, the causes of late familial forms, which in any case are thought to derive from a concomitance of genetic and environmental factors not yet identified.“.
According to the Alzheimer Federation Italy, Every 3 seconds, in the world, an individual is affected by a form of dementia. Globally, dementia affects 47 million people. In Italy there are an estimated 1,241,000 cases. Dementia is there seventh cause of death worldwide and unfortunately there is still no cure.
According to Paola Barbarino, CEO of ADI: “NThere are not enough people involved in dementia research: this needs to change. We hope that the dissemination of this Report will raise awareness of Alzheimer’s disease and dementia, and ignite a debate to get as many governments and companies as possible to devote funds and attention to people with dementia and their families to achieve better quality of life “.
Gabriella Salvini Porro, president of the Alzheimer Italy Federation, specified: “A world in which people with dementia and their families can live well and obtain the care and support necessary to maintain dignity, respect, autonomy and equality: this is the wish with which the WHO adopted the Global Plan on Dementia. We of the Alzheimer Italy Federation share the same great goal. This is why we become spokespersons for people with dementia in our country, stressing once again the need for the National Dementia Plan to receive adequate funding, aimed at promoting appropriate interventions in the integrated management of dementia “.