Altered expression of apoA-I, apoA-IV and PON-1 activity in CBS deficient homocystinuria in the presence and absence of treatment: possible implications for cardiovascular outcomes.

@article{Jiang2012AlteredEO,
  title={Altered expression of apoA-I, apoA-IV and PON-1 activity in CBS deficient homocystinuria in the presence and absence of treatment: possible implications for cardiovascular outcomes.},
  author={Hua Jiang and Sally P. Stabler and R. D. Allen and Kenneth N. Maclean},
  journal={Molecular genetics and metabolism},
  year={2012},
  volume={107 1-2},
  pages={55-65}
}
Classical homocystinuria (HCU) is caused by mutations in cystathionine beta-synthase (CBS) which, if untreated, typically results in cognitive impairment, thromboembolic complications and connective tissue disturbances. Paraoxonase-1 (PON1) and apolipoprotein apoA-I are both synthesized in the liver and contribute to much of the cardioprotective effects of high density lipoprotein. Additionally, apoA-I exerts significant neuro-protective effects that act to preserve cognition. Previous work in… CONTINUE READING