阿尔茨海默氏症,载脂蛋白E z-bo 2020-09-15 426

　　Although the mutant form of apolipoprotein E (ApoE) is a risk factor for Alzheimer's disease, it is not known whether apolipoprotein E is very important for brain health in general. Therefore, it is not known whether it will be safe to completely abolish various forms of apolipoprotein E. Although many people may have been unable to control the removal of apolipoprotein E from the central nervous system in some way, the actual results are not satisfactory.

　　Recently, due to an unusual opportunity, the issue of the role of apolipoprotein E in brain health has been raised again. A 40-year-old California man suffers from a rare form of severe lipoproteinemia. He has no apolipoprotein E at all. , But the cognitive function is normal.

　　Since apolipoprotein E exists in the central nervous system and the pigment epithelial cells of the eye retina, the research team of Dr. Malloy carefully examined the man’s retina and neurocognitive functions. In addition, whole-genome sequencing of the patient’s DNA showed that the patient carried a mutation that caused apolipoprotein E deficiency.

　　The research results were published in the August 11th issue of JAMA. Although there is no apoE at all, he has normal vision, showing normal cognitive function, nervous system and retinal function, brain magnetic resonance imaging also shows normal results, and the β-amyloid and tau protein in the cerebrospinal fluid are normal Level.

　　Detailed neurocognitive studies and retinal studies have failed to prove that the patient has defects, indicating that apoE is not critical in brain and eye functions, or their functions may be replaced by other proteins. Surprisingly, for this patient's central nervous system function, it seems that no apolipoprotein E is better than apoE4.

　　The conclusion of the study is: targeted knockout to reduce the apolipoprotein E in the central nervous system may be a new treatment for neurodegenerative diseases.