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Study on the Correlation between mRNA Expression and Mutation of SORL1 Genes and Alzheimer Disease

Author: HouLei
Tutor: JiaJianJun
School: PLA Postgraduate Medical School
Course: Neurology
Keywords: Alzheimer's disease SORL1 Gene Expression Gene mutation
CLC: R749.16
Type: Master's thesis
Year: 2011
Downloads: 77
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Abstract

Background Alzheimer's disease (Alzheimer's disease, AD, also known as senile dementia), is a kind of memory loss is mainly associated with acquired intelligence decline of other cognitive dysfunction syndrome. Occult disease onset, slow progress, pathology showed diffuse brain atrophy, especially temporal, parietal, prefrontal atrophy, abnormal expansion of the third ventricle and the lateral ventricles, hippocampal atrophy Histological including senile plaques, neuron neurofibrillary tangles and extensive neuronal loss and vascular amyloid degeneration and other histological changes. , Β-amyloid as the main component of the senile plaques in the brain tissue abnormal increase or aggregation is the main reason leading to neuronal death. Sorting protein-related receptor 1 gene (sortilin-related receptor receptor 1 gene, SORL1 gene) is a newly discovered Alzheimer disease gene involved in APP cleavage links to increase late-onset Alzheimer's disease (Late-onset Alzheimer's disease, Late-onset AD) spoon-risk, but not exactly different races morbidity. Has been reported, the expression amount of it in the brain of AD patients to reduce, or even half of the healthy elderly. Currently, foreign SORL1 gene expression and variation in the peripheral blood of patients with AD reported more, but less domestic reports. Based on this, the issues contemplated by late-onset sporadic Alzheimer's disease (Sporadic Alzheimer's disease, SAD) patients and healthy elderly SORL1 gene mRNA expression levels in peripheral blood testing and DNA sequencing analysis, to further explore the SORL1 gene with Han Chinese people correlation between late-onset SAD, a new method for early clinical diagnosis of Alzheimer's disease. Consists of two parts: the first part of the the the SORL1 gene expression and the relationship between Alzheimer's disease research purposes of Han Chinese people delayed the SAD in peripheral blood SORL1 gene mRNA expression content METHODS 23 patients with late-onset SAD (late-onset SAD group ), according to the U.S. National Institutes of Neurology, language barriers and Stroke - Alzheimer's disease and related diseases Society Working Group (NINCDS-ADRDA) and section 10 of the WHO Classification of Diseases Revision (ICD-10) diagnostic criteria, choose another 12 cases of healthy elderly As a control group. Separation of the 2 group of peripheral blood mononuclear cells, extraction of total RNA was reverse transcribed to cDNA using real-time quantitative PCR, SORL1 gene and glyceraldehyde phosphate dehydrogenase mRNA content evaluation SORL1 gene mRNA expression ratio as indicators and calculate the exact content of the SORL1 gene mRNA expression in the test sample. Results delayed the SAD group and the control group in peripheral blood SORL1 gene: mRNA expression was significantly different (0.392 ± 0.286vs1.174 ± 0.325, P lt; 0.01), gender, age no significant correlation. Conclusion Han from human peripheral blood the SORL1 gene expression levels of mRNA and late-onset SAD is closely related; the SORL1 gene mRNA expression by real-time quantitative detection peripheral blood, the guidance of late-onset SAD early diagnosis can play a supporting role. Second part of the the SORL1 gene mutation and Objective To study the relationship between Alzheimer's disease in Chinese Han people delayed the SAD crowd peripheral blood the SORL1 gene mutations in method to select the 35 patients with late-onset SAD (late-onset SAD group), choose another healthy elderly 10 patients (control group). The separation of the two groups of peripheral blood mononuclear cells, extracted total RNA, anti-transcribed to cDNA according to the SORL1 gene standard base sequence were designed for some downstream primers, was amplified by PCR and sequencing analysis. Delayed in the SAD group 1 patients cDNA fragment 5813 base position mutation, by the standard base for the base C to T mutation, the mutation rate was 2.9%, the rest of the patients and the control group was not found cds District gene mutation. Conclusion of the peripheral blood SORL1 gene expression of cDNA nucleotide sequence of the 5813 position, can play a supporting role in guiding early diagnosis in patients with late-onset SAD; provide theoretical guidance for the functionality of the latter part of this base sites.

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