Words similar to sitosterolemia

Example sentences for: sitosterolemia

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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.
Hypertensive rats have sitosterolemia and a mis-sense change in Abcg5
Thus, this mutation in WKY, SHR and SHRSP lines may not contribute to the hypertension phenotype per se , but may only be responsible for sitosterolemia.
With respect to sitosterolemia in humans, although atherosclerotic complications have been well-described, hypertension has not been mentioned as feature.
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.