Elevated homocysteine levels are associated with a wide range of disease states, such as homocystinuria, end-stage renal disease, cardiovascular disease, neural tube defects and Alzheimer’s disease. With regards to inherited forms of elevated homocysteine, mutations of the gene that encodes the regulatory enzyme, cystathionine beta-synthase (CBS), are the leading cause. These mutations prevent the body from creating the CBS enzyme which regulates homocysteine levels. Dr. Jan Kraus and his research team at the University of Colorado have characterized the CBS gene and devised methods for detecting the most common mutations of CBS enzyme. Furthermore, they have identified the shortest truncated variant form that still maintains the activity of the CBS enzyme. The truncated form can be used as enzyme replacement therapy for those patients who do not respond to traditional interventions; since the truncated peptide is 3x more active than the original, this treatment is even more attractive than supplementation.
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