Investigators at the University of Calgary and McGill University have identified genes that underlie two severe diseases of vitamin B12 metabolism. The two diseases, known as the cblA and cblB forms of methylmalonic aciduria, may produce brain damage, mental retardation and even death if not detected in infancy or early childhood.
Melissa Dobson, a graduate student at the University of Calgary working with Roy Gravel PhD in the Department of Biochemistry and Molecular Biology, is lead author of two papers reporting the identification of the two genes. The genes were first identified in bacteria and then traced to their human counterparts. She credits the human genome project with her breakthrough. "We can now compare human and bacterial DNA sequences to find human genes," states Dobson. "This was made possible by the availability of the sequence of the complete human genome."
To prove whether she and colleague Daniel Leclerc, PhD, had identified the correct genes, she approached her McGill collaborators, Dr. David Rosenblatt and Dr. Thomas Hudson, for help in screening patients. The McGill University Health Centre (MUHC) has a world-renowned diagnostic facility and cell bank for patients with genetic diseases involving vitamin B12. Using Genome Quebecs MUHC -based sequencing centre, Dobson and her colleagues confirmed the presence of mutations in DNA from patients with the two diseases.
Christine Zeindler | EurekAlert!
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