The genetics of Alzheimer's disease.

摘要: Alzheimer’s disease (AD) is a complex and heterogeneous neurodegenerative disorder, classified as either early onset (under 65 years of age), or late (over age). Three main genes are involved in AD: amyloid precursor protein (APP), presenilin 1 (PSEN1), 2 (PSEN2). The apolipoprotein E (APOE) E4 allele has been found to be risk factor for late-onset disease. Additionally, genome-wide association studies (GWASs) have identified several that might potential factors AD, including clusterin (CLU), complement receptor (CR1), phosphatidylinositol binding clathrin assembly (PICALM), sortilin-related (SORL1). Recent discovered additional novel such triggering expressed on myeloid cells (TREM2) cluster differentiation 33 (CD33). Identification new AD-related important better understanding the pathomechanisms leading neurodegeneration. Since differential diagnoses disorders difficult, especially stages, genetic testing essential diagnostic processes. Next-generation sequencing successfully used detecting mutations, monitoring epigenetic changes, analyzing transcriptomes. These may promising approach toward complete mechanisms diverse AD.