A team of researchers at Baylor College of Medicine and collaborating institutions has shed new light into the complexity of vitamin B12 diseases. The scientists studied two rare inherited vitamin B12 conditions that affect the same gene but are clinically distinct from the most common genetic vitamin B12 disorder. This work suggested that, in addition to the gene affected in the common vitamin B12 disease, other genes also were affected, making a more complex syndrome. This study searched for those genes and their function.
Working with mouse models, the team found that the genes involved in the more complex forms of the condition not only cause the expected typical vitamin B12 disease but also affect the generation of ribosomes, the protein-building machinery of the cell. The findings, published in the journal Nature Communications, support reevaluating how to treat these patients…
