Alzheimer genetic research of Alzheimer's disease

Posted by Well carlota on December 2nd, 2019

Alzheimer's disease (AD) is a degenerative disease of the central nervous system characterized by progressive cognitive impairment and behavioral damage. Ad is the most common type of dementia in the elderly, accounting for 50% - 70% of all dementia in the elderly. The prevalence of ad in the population over 65 years old is about 3% - 5%.

Clinical manifestations include memory disorder, attention disorder, aphasia, misuse, blindness, visual space disorder, executive dysfunction, personality and behavior changes, which seriously affect the daily work, social and life ability of patients and their caregivers, as well as their quality of life. At present, the etiology and pathogenesis of AD are not clear.  It is generally believed that ad is the result of both genetic and environmental factors, and genetic factors play an important role in the pathogenesis of AD.

Alzheimer's disease (AD) can be divided into early onset (eoad) and late onset (load) , of which load accounts for more than 90% .Both of them are the result of interaction between genetic factors and environmental factors, and the heritability of load is as high as 80%. With the completion of human genome project, the progress of genome-wide association research and second-generation gene sequencing technology, a series of genes (Bin1, clu, ABCA7, CR1, picalm, ms4a4a / ms4a6a / ms4a4e, EphA1, CD2AP, CD33) have been found to be susceptible to load.

Family analysis has confirmed that Eoad is an autosomal dominant genetic disease with family aggregation. It has been found that 30% - 40% of Eoad patients are caused by β - amyloid precursor protein (APP), presenilin 1 (PSEN 1) and presenilin 2 (Psen2). Twin studies showed that the heritability of Eoad was as high as 80%. Unlike early-onset AD, late-onset AD patients rarely carry mutations in the dominant genetic pattern。 The research shows that the occurrence of load is not caused by a single gene mutation, but related to the interaction of multiple genes These genes are called load susceptibility genes When individuals carry certain genotypes of these genes, the risk of late-onset AD increases.

Ad is a complex disease with the interaction of environment and genetic factors.With the increasing of aging, the burden of ad on families and society has become increasingly prominent.At present, there is no effective drug to control the development of AD.The key to the treatment of ad is to clarify the pathogenesis and explore the early and effective diagnosis.

The AD genetic research is of great significance to find the cause of AD and to carry out the prevention and treatment of AD.

Although a series of genes related to ad susceptibility have been found, their relationship and mechanism of action with AD are still controversial and cannot be widely used in clinical practice.

It is of great significance to study the genetics of large samples of ad in population.

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