Research Directions
Loss of myelin in the Central Nervous System is considered to be a main pathogenic factor. Research uses animal models carrying the underlying mutation for Niemann-Pick disease, e.g. a mutation in the NPC1 gene Niemann-Pick type C disease. In this model the expression of Myelin gene Regulatory Factor (MRF) has been shown to be significantly decreased. MRF is a transcription factor of critical importance in the development and maintenance of myelin sheaths. A perturbation of oligodendrocyte maturation and the myelination process might therefore be an underlying mechanism of the neurological deficits.
Read more about this topic: Niemann-Pick Disease, Type C
Famous quotes containing the words research and/or directions:
“Feeling that you have to be the perfect parent places a tremendous and completely unnecessary burden on you. If we’ve learned anything from the past half-century’s research on child development, it’s that children are remarkably resilient. You can make lots of mistakes and still wind up with great kids.”
—Lawrence Kutner (20th century)
“What do you think of us in fuzzy endeavor, you whose directions are sterling, whose lunge is straight?
Can you make a reason, how can you pardon us who memorize the rules and never score?”
—Gwendolyn Brooks (b. 1917)