Alteration in brain presenilin 1 mRNA expression in early onset familial Alzheimer's disease
| Autor: | Robert Clark, B Crook, Eric Karran, R.C.A. Pearson, John Hardy, D. M. A. Mann, George Roberts, Alison Goate, Deborah Dewar, Mike Hutton, Amanda J. L. Barton, Felix H Brown, David I. Graham, Karen Duff |
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| Rok vydání: | 1996 |
| Předmět: |
Adult
medicine.medical_specialty Late onset In situ hybridization Presenilin Pathology and Forensic Medicine Pathogenesis Alzheimer Disease Internal medicine Amyloid precursor protein medicine Presenilin-1 Humans Tissue Distribution RNA Messenger Age of Onset In Situ Hybridization Aged Genetics Aged 80 and over Messenger RNA biology Membrane Proteins Human brain Middle Aged Blotting Northern Neuropsychology and Physiological Psychology medicine.anatomical_structure Endocrinology biology.protein Neurology (clinical) Age of onset |
| Zdroj: | Neurodegeneration : a journal for neurodegenerative disorders, neuroprotection, and neuroregeneration. 5(3) |
| ISSN: | 1055-8330 |
| Popis: | The expression of the presenilin 1 (PS-1) gene has been investigated by in situ hybridization in early onset familial Alzheimer's disease (FAD), late onset Alzheimer's disease (AD) and normal control brain. Mutations in this gene are responsible for chromosome 14-linked FAD. We have found that presenilin 1 mRNA is present throughout the human brain with a distribution consistent with both a glial and neuronal localization. The in situ hybridization pattern was similar for the controls, the early onset FAD cases and the late onset AD cases. However, one of the two forms of the mRNA for PS-1, the long form (which contains a sequence encoding a four amino acid (VRSQ) insert at its 5' end) was significantly reduced in early onset FAD brain compared with late onset AD. We suggest that this long transcript may alter the normal pathway for processing of amyloid precursor protein, the protein which appears to be central in the pathogenesis of AD. |
| Databáze: | OpenAIRE |
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