Abstract

In order to clarify whether cystathionine beta-synthase (CBS) could differentiate groups of patients with various vascular diagnosis, CBS was studied in cultured human skin fibroblasts from 99 human subjects diagnosed as homozygotes or heterozygotes for CBS deficiency or suffering from atherosclerotic vascular disease or Down's syndrome (prone to less atherosclerosis). In addition, embryonic human skin fibroblasts and controls were analysed for CBS. We found significant group differences but the overlap in the hetero- and homozygotes for CBS deficiency was too extensive to allow any individual diagnosis based on cell culture studies. CBS activity was significantly lower in the atherosclerotic patients as compared to control subjects. The difference was mostly due to much higher CBS activity in the younger controls. Age dependency was markedly emphasized by very high values from embryonic cells. A strong negative correlation was noted for age and CBS activity in control subjects but not in the atherosclerotic patients. The results are important for the discussion of homocysteine in atherosclerosis and point to the importance of donor age on CBS activity in cultured cells. In addition, diagnosis of hetero-homozygosity for CBS activity is not possible on an individual basis by this method. Further studies in cell culture systems are needed to investigate if young patients (< 45 years old) with atherosclerotic disease could be identified by low CBS activity in fibroblast cultures as indicated by this study.

Talk to us

Join us for a 30 min session where you can share your feedback and ask us any queries you have

Schedule a call

Disclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.