کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
6277575 | 1295765 | 2009 | 17 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Endophenotypes in normal brain morphology and Alzheimer's disease: a review
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کلمات کلیدی
CCMSQTLCVLTCognitive impairment no dementiaADAS-CogSORL1EndophenotypesCalifornia verbal learning test - آزمون کلامی کالیفرنیاinsulin degrading enzyme - آنزیم تحقیر کننده انسولینApoe - آپوapolipoprotein E - آپولیپوپروتئین Ecognitive impairment - اختلال شناختیmild cognitive impairment - اختلال شناختی خفیفIDE - اینجاLoad - بارDizygotic - بیضویAlzheimer's disease - بیماری آلزایمرLate-onset Alzheimer's disease - بیماری آلزایمر در شروع زودرسQuantitative trait loci - تعداد صفات صفاتCognitive reserve - ذخیره شناختیBrain morphology - مورفولوژی مغزMonozygotic - مونوزیگوتMCI - همراه اولCIND - وقتیsortilin-related receptor - گیرنده وابسته به سورلیین
موضوعات مرتبط
علوم زیستی و بیوفناوری
علم عصب شناسی
علوم اعصاب (عمومی)
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چکیده انگلیسی
Late-onset Alzheimer's disease is a common complex disorder of old age. Though these types of disorders can be highly heritable, they differ from single-gene (Mendelian) diseases in that their causes are often multifactorial with both genetic and environmental components. Genetic risk factors that have been firmly implicated in the cause are mutations in the amyloid precursor protein (APP), presenilin 1 (PSEN1) and presenilin 2 (PSEN2) genes, which are found in large multi-generational families with an autosomal dominant pattern of disease inheritance, the apolipoprotein E (APOE)ε4 allele and the sortilin-related receptor (SORL1) gene. Environmental factors that have been associated with late-onset Alzheimer's disease include depressive illness, various vascular risk factors, level of education, head trauma and estrogen replacement therapy. This complexity may help explain their high prevalence from an evolutionary perspective, but the etiologic complexity makes identification of disease-related genes much more difficult. The “endophenotype” approach is an alternative method for measuring phenotypic variation that may facilitate the identification of susceptibility genes for complexly inherited traits. The usefulness of endophenotypes in genetic analyses of normal brain morphology and, in particular for Alzheimer's disease will be reviewed as will the implications of these findings for models of disease causation. Given that the pathways from genotypes to end-stage phenotypes are circuitous at best, identifying endophenotypes more proximal to the effects of genetic variation may expedite the attempts to link genetic variants to disorders.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Neuroscience - Volume 164, Issue 1, 24 November 2009, Pages 174-190
Journal: Neuroscience - Volume 164, Issue 1, 24 November 2009, Pages 174-190
نویسندگان
C. Reitz, R. Mayeux,