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:
“The great question that has never been answered and which I have not get been able to answer, despite my thirty years of research into the feminine soul, is “What does a women want?””
—Sigmund Freud (1856–1939)
“I do not like football, which I think of as a game in which two tractors approach each other from opposite directions and collide. Besides, I have contempt for a game in which players have to wear so much equipment. Men play basketball in their underwear, which seems just right to me.”
—Anna Quindlen (b. 1952)