Words similar to sitosterolemia
Example sentences for: sitosterolemia
How can you use “sitosterolemia” in a sentence? Here are some example sentences to help you improve your vocabulary:
In order to identify naturally occurring animal models of sitosterolemia, we previously reported a screen of 20 in-bred mouse strains [ 14 ] . This screen showed considerable genetic variation at these loci in the mouse strains, but none of these strains exhibited sitosterolemia.
Interestingly, a similar whole-body accumulation of plant sterols, less severe than in human sitosterolemia, has been reported recently in SHR, SHRSP and WKY rats, but not in the other genetically related rat strains, such as SD, Wistar and WKA rats [ 16 ] . These rats exhibit defects at two levels: increased absorption of sterols (plant and animal) at the intestinal level and decreased excretion of sterols into bile [ 16 ] . The higher sterol absorption in the intestine and the lower biliary excretion of plant sterols in these rat strains led us to hypothesise that Abcg5 or Abcg8 gene mutations may be responsible for the sitosterolemia observed in these hypertensive rats.
ABCG5 and ABCG8 are two genes located adjacently in a head-to-head configuration on human chromosome 2p21, encoding for two half-transporters, sterolin 1 and sterolin 2 respectively [ 9 10 12 ] . Mutations in either of these genes causes sitosterolemia, characterized by hyperabsorption of phytosterols, reduced excretion of sterols into the bile and very elevated levels of plasma plant sterol levels.
With respect to sitosterolemia in humans, although atherosclerotic complications have been well-described, hypertension has not been mentioned as feature.
Such lines will be useful in demonstrating that the variant sterolin-1 protein is responsible for causing sitosterolemia, but will allow comparisons between animals that are hypertensive and those that are hypertensive and sitosterolemic.
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