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Untangling the Genetics of a Complex Disease

Article Abstract:

More research is needed on the possible link between a gene on chromosome 12 and Alzheimer's disease (AD). Four genes have already been linked to AD: the genes for amyloid precursor protein, presenilin 1, presenilin 2 and apolipoprotein E epsilon4. However, these genes only account for about half the risk of AD, so researchers continue to search for other genes. Two 1998 studies provided conflicting evidence on this question. One found a link between AD and a region on chromosome 12 but the other did not. Chance alone could have caused one or the other result and this is why further research is needed.

Author: Daly, Mark J.
Publisher: American Medical Association
Publication Name: JAMA, The Journal of the American Medical Association
Subject: Health
ISSN: 0098-7484
Year: 1998
Editorial

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Exploring the etiology of Alzheimer disease using molecular genetics

Article Abstract:

Several gene mutations appear to be involved in the development of Alzheimer's disease and research may uncover more. Alzheimer's disease is characterized partly by deposits in the brain of a protein called beta amyloid. It is the principle component of senile plaques. Mutations in three genes seem to be involved in the production of abnormally long beta amyloid fibers, which are more prone to deposition. The genes involved are those for beta-amyloid precursor protein, presenilin-1 and presenilin-2. The gene for apolipoprotein E also appears to be involved in some cases of Alzheimer's disease.

Author: Goate, Alison M., Lendon, Corinne L., Ashall, Frank
Publisher: American Medical Association
Publication Name: JAMA, The Journal of the American Medical Association
Subject: Health
ISSN: 0098-7484
Year: 1997

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Clinical features of early-onset Alzheimer disease in a large kindred with an E280A presenilin-1 mutation

Article Abstract:

A study of 5 large Colombian families reveals that early-onset Alzheimer's disease has many of the same clinical features as late-onset disease. Among 3,000 people in the families, 6 had Alzheimer's disease at autopsy, 93 had probable early-onset disease and 29 had possible early-onset disease. These families are characterized by a mutation in the presenilin-1 gene, which has been linked to Alzheimer's disease. The average age of onset was 47 years but some began having symptoms in their 30s. Symptoms included headache, memory loss, personality change and gait disorders.

Author: Martinez, Alonso, Goate, Alison M., Rosselli, Monica, Ruiz-Linares, Andres, Lemere, Cynthia A., Lopera, Francisco, Ardilla, Alfredo, Madrigal, Lucia, Arango-Viana, Juan Carlos, Arango-Lasprilla, Juan Carlos, Hincapie, Liliana, Arcos-Burgos, Mauricio, Ossa, Jorge E., Behrens, Isabella M., Norton, Joanne, Lendon, Corrine, Kosik, Kenneth S.
Publisher: American Medical Association
Publication Name: JAMA, The Journal of the American Medical Association
Subject: Health
ISSN: 0098-7484
Year: 1997
Analysis, Physiological aspects, Familial diseases, Colombians

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Subjects list: Health aspects, Gene mutations, Gene mutation, Genetic aspects, Alzheimer's disease
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