New Metabolic strategies for improving the treatment of
homocystinuria due to CBS deficiency and remethylation defects
Principal Investigator: Kenneth N. Maclean, Ph.D.
January 25, 2019
The HCU Networks have awarded funding to a research project to investigate the potential usage of metabolic compounds to treat CBS-deficient homocystinuria (HCU). The research, entitled New Metabolic strategies for improving the treatment of homocystinuria due to CBS deficiency and remethylation defects, will be carried out by Professor Kenneth N. Maclean at the University of Colorado School of Medicine, Denver.
According to the principal investigator, Kenneth Maclean, “ A number of lines of evidence have led us to hypothesize that improving our understanding of the regulation of the betaine metabolic pathway in HCU may hold the key to improving treatment in all forms of homocystinuria with a view towards reducing dependence upon methionine restriction and improving clinical outcome”, said Dr. Maclean. “Preliminary work in our laboratory using an animal model of HCU has indicated that this approach has the potential to deliver near normal levels of homocysteine in the presence of a normal protein diet which would represent a highly significant advance in treatment for this condition”. A lot more work is required to capitalize upon these promising early findings and the grant from HCU Network America and HCU Network Australia constitutes an essential first step in that process.”
Founder and director of the HCU Network Australia, Tara Morrison said “the Network is excited to be providing support to this research project which offers the potential to develop a new treatment for the disorder. A treatment approach that could potentially relax or remove the need for a protein-restricted diet is much-needed in this community and would ease the burden on the affected individual and the people who care for them”.
President of HCU Network America, Margie McGlynn said: “It is exciting to award our first grant and to explore this potential new mechanism, and we look forward to expanding our grants program to help improve the diagnosis and treatment of this challenging disease”.
About Kenneth N. Maclean, Ph.D.
Kenneth N. Maclean, Ph.D., is the Professor of Pediatrics, Ehst-Hummel-Kaufman Family Endowed Chair in Inherited Metabolic Disease, Department of Pediatrics, at the University of Colorado School of Medicine, Denver.
Professor Maclean did his undergraduate degree and Ph.D. in genetics and biochemistry at the University of Greenwich in the United Kingdom. This was followed by a research fellowship at the Hungarian Academy of Sciences in Szeged and a post-doc at the Royal London Hospital. Since coming to America in 1997, he has worked primarily on investigating the pathogenic mechanisms involved in cystathionine beta-synthase deficient homocystinuria with a view toward the rational design of novel treatment strategies for this condition.