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Niemann Pick
In 1914, German pediatrician Albert Niemann
described a young child with brain and nervous system impairment.
Later, in the 1920's, Luddwick Pick studied tissues after
the death of such children and provided evidence of a new
disorder, distinct from those storage disorders previously
described.
Today, there are three separate diseases
that carry the name Niemann Pick: Type A is the acute infantile
form, Type B is a less common, chronic, non-neurological form,
while Type C is a biochemically and genetically distinct form
of the disease. Recently, the major locus responsible for
Niemann Pick type C (NP-C) was cloned from chromosome 18,
and found to be similar to proteins that play a role in cholesterol
homeostasis.
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Usually, cellular cholesterol is imported
into lysosomes 'bags of enzymes' in the cell for processing,
after which it is released. Cells taken from NP-C patients
have been shown to be defective in releasing cholesterol from
lysosomes. This leads to an excessive build-up of cholesterol
inside lysosomes, causing processing errors. NPC1 was found
to have known sterol-sensing regions similar to those in other
proteins, which suggests it plays a role in regulating cholesterol
traffic.
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