Down syndrome is characterized by the presence in the human genetic heritage of an extra copy of chromosome 21,known as trisomy 21,on which there are genes that preside over the synthesis of the beta-amyloid protein,considered responsible for the disease of Alzheimer's.People with Down syndrome have higher brain levels of this protein and a high risk of developin Alzheimer's disease,due to intellectual capacity deficits and behavioural symptoms that are difficult to diagnose,especially in the onset phase of the disease.Howerer,much of the Down's population shows signs of Alzheimer's disease in juveniles. The autor, in the observational study and in the review of international literature,presented the link between these these two diseases,highlighting how lowering brain levels of the beta-amyloid protein directly connect to a improved learning capacity and also assessed,with a series of standard tests,the subjects Down with the highest amount of beta-amyloid protein who showed greater learning difficulties.
La Sindrome di Down è caratterizzata dalla presenza,nel patrimonio genetico umano,di una copia in più del cromosoma 21,nota come trisomia 21,su cui sono presenti i geni che presiedono alla sintesi della proteina beta-amiloide,considerata responsabile della malattia di Alzheimer.I soggetti affetti dalla Sindrome di Down hanno livelli cerebrali più elevati di questa proteina e un rischio elevato di sviluppare la malattia di Azheimer,accomunati dal deficit della capacità intellettiva e da sintomi comportamentali difficili da diagnosticare,soprattutto nella fase di esordio.Tuttavia,gran parte della popolazione Down mostra i segni della malattia di Alzheimer in età giovanile. L'autore,nello studio osservazionale e nella revisione della letteratura internazionale,ha presentato il legame esistente tra queste due patologie,evidenziando come la riduzione dei livelli cerebrali della proteina beta-amiloide si colleghi direttamente ad un miglioramento della capacità di apprendimento.
SINDROME DI DOWN E MALATTIA DI ALZHEIMER.STUDIO OSSERVAZIONALE DI UN LEGAME SFAVOREVOLE
Lepore Maria Antonietta
2020
Abstract
Down syndrome is characterized by the presence in the human genetic heritage of an extra copy of chromosome 21,known as trisomy 21,on which there are genes that preside over the synthesis of the beta-amyloid protein,considered responsible for the disease of Alzheimer's.People with Down syndrome have higher brain levels of this protein and a high risk of developin Alzheimer's disease,due to intellectual capacity deficits and behavioural symptoms that are difficult to diagnose,especially in the onset phase of the disease.Howerer,much of the Down's population shows signs of Alzheimer's disease in juveniles. The autor, in the observational study and in the review of international literature,presented the link between these these two diseases,highlighting how lowering brain levels of the beta-amyloid protein directly connect to a improved learning capacity and also assessed,with a series of standard tests,the subjects Down with the highest amount of beta-amyloid protein who showed greater learning difficulties.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.