Will Stem Cell help people with CADASIL?





(Dr Joutel) At the AGM in April 2013, Dr Joutel set out a research project about stem cells. This work has taken place in collaboration with Dr Sanjay Sinha, of Cambridge, England, who is an expert in the 10 field of obtaining smooth muscular blood vessel cells from Ips cells (Induced Pluripotent Stem Cells). The aim is to cultivate smooth muscular blood vessel cells from the patients who have CADASIL in order to study the reasons why these vessels are the centre of abnormal deposits of NOTCH3 and undergo a process of degeneration.

These cells will allow us to understand how the mutated protein clumps together, and to identify if it is the deposits that are toxic or the small accumulations of a few molecules of mutated proteins, etc. The results will be a lot more rapid than when working with mice (that have to be crossed, allowed to grow old, etc.) Dr Hervé has performed biopsies on eight patients. With these cells, fibroblasts have been prepared and cultured in Dr Joutel’s laboratory.

They have been reprogrammed as stem cells in England, for five patients who have five different types of mutation, and then redifferentiated into smooth muscular cells. The first results are very encouraging. It appears that we might see abnormalities such as deposits of NOTCH3. These cells might constitute another tool with which to test the antibody anti-NOTCH3 and even allow us to improve it. The Dutch therapeutic strategy, which aims to modify the mutated protein, is also going to be tested on these human cells.  (Medical Presentation 2016 Paris France)





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