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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Researchers from the University of Basel have reported a new method that allows the physical state of just a few atoms or molecules within a network to be controlled. It is based on the spontaneous self-organization of molecules into extensive networks with pores about one nanometer in size. In the journal ‘small’, the physicists reported on their investigations, which could be of particular importance for the development of new storage devices.
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A research team from the University of Zurich has developed a new drone that can retract its propeller arms in flight and make itself small to fit through narrow gaps and holes. This is particularly useful when searching for victims of natural disasters.
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18.12.2018 | Physics and Astronomy