the School for Medicine of the Medical Sciences Campus (RCM) of the University of Puerto Rico investigates which gene delays the development of Alzheimer's in members of Puerto Rican families with hereditary predisposition to the disease. He explained the agency Efe the research lead researcher, Ivonne Jiménez, the research, which began in 2002, led to the discovery of 90 families on the island with the genetic mutation that causes early Alzheimer's disease, known as "Beginning of Alzheimer's disease"(EOAD, in English) or early Alzheimer's disease, in Spanish.
Jiménez He explained that about 200 mutations were related to Alzheimer's at an early age, but they noticed that Puerto Rico there were many affected families with the same type of mutation, something that they are still analyzing. A genetic mutation is a defect in a gene that causes a defective protein to be produced, which can lead to an increased risk of developing a disease.
"We study the risk factors that cause this disease, which expresses the mutation," he said. Jiménez, which started the research in 2002 in collaboration with the head of Neurology and geneticist at Columbia University in New York, respectively Richard Mayeux and Joseph H. Lee. According to the researcher, Mayeux had found it New York many cases of Puerto Ricans and Dominicans with Alzheimer's disease.
however, Mayeux he visited Puerto Ricoand together with Jiménez, they began to evaluate families whose members had Alzheimer's, and discovered that many were older than 80, but also younger, especially under 60 years of age. "We were surprised that many young, productive and hard-working people had the symptoms of Alzheimer's," Jiménez said. "The younger the person, the more aggressive their character and physical condition deteriorate faster."
Five years later the research began – in 2007 – Lee visited Puerto Rico "to put more emphasis on families with young people," he said. Jiménez. At that time they created a genealogy of the people they knew with Alzheimer's disease and if they had more families with this condition, because they got a better idea of whether the problem is hereditary.
"Initially we thought that all members of the family had the disease, but others with a higher age did not have the disease, even with the mutation, and then we went looking for what protected them against the disease," he said. . They were people who had exceeded the age when their relatives began to suffer from the disease.
Currently, although Jiménez – also director of Department of internal medicine and geriatrics of RCM– said that "it is difficult to know the specific calculation" of people with EOAD, although they discovered that one in three develops the disease. He said Jimenez, the majority of people with the disease live in the western zone of Puerto Rico, particularly in the municipalities of San Sebastián, Aguadilla and San Germán.
"We can think that if this mutation has arrived in Europe, because the Europeans arrived in those areas and populated the island, then in the middle of the island the areas that are mostly of the same family and that increase the risk of disease. "he explained. To continue with his research, the National Institute of Health has awarded the RCM $ 2.5 million over the next five years to find out what affects the effect of mutations as protective genes, Jimenez concluded.