Genetic studies have linked variations of the SORL1 gene to both early- and late-stage Alzheimer’s disease (AD), but the exact link between damaged SORL1 genes and AD was not previously known. To further understand the role of SORL1 in AD, a team of researchers—including FunGen-AD grantee Philip L. De Jager—analyzed stem cells from patients with AD.
The investigators found that the loss of normal SORL1 function triggers a reduction in APOE and CLU proteins, two key proteins that play a critical role in the neurons of healthy individuals. Without these proteins, neurons cannot properly regulate lipids, which accumulate in droplets that may impair communication between neurons.
These findings point to potential alternative treatments for AD.
The research was supported in part by FunGen-AD grant U01AG072572 and was published in Cell Reports here. You can read more about the research findings at the following links:
- Stem Cell Research Sheds Light on New ‘Molecular Road’ to Alzheimer’s Disease (Brigham & Women’s Hospital)
- The road that ends with Alzheimer’s (The Harvard Gazette)
- New Research Sheds Light on New “Molecular Road” to Alzheimer’s Disease (SciTechDaily)
- Stem cell research sheds light on new ‘molecular road’ to Alzheimer’s disease (Medical XPress)