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Revista Cubana de Investigaciones Biomédicas
versão On-line ISSN 1561-3011
Resumo
PADRON PEREZ, Noel; GRA MENENDEZ, Silvia e LLIBRE RODRIGUEZ, Juan de Jesús. Presenilinas, Apo E y enfermedad de Alzheimer. Rev Cubana Invest Bioméd [online]. 2002, vol.21, n.4, pp. 262-269. ISSN 1561-3011.
A review was made on the identification and isolation of the genes codyfing for presenilin 1 and 2 (chromosome 14 and 21, respectively), as well as on the detection of mutations, which is one of the achievements of the genetic strategy to study Alzheimers disease. These investigations have contributed to explain a percentage of the cases with family history and early-onset affection. The Apo E gene, mainly the presence of allele e4 located in chromosome 19, is associated with late-onset family Alzheimers disease. Some aspects showing the remarkable advance attained in the knowledge of the physiopathogenic events, which are subjacent to the most frequent cause of dementia and are not clear yet, are dealt with.
Palavras-chave : ALZHEIMER DISEASE [genetics]; ALZHEIMER DISEASE [etiology]; CHROMOSOMES, HUMAN, PAIR 1; CHROMOSOMES, HUMAN, PAIR 14; CHROMOSOMES, HUMAN, PAIR 19; CHROMOSOMES, HUMAN, PAIR 21.