Nature sub-published paper reveals complexity of vitamin B12 disease

Researchers at institutions including Baylor College of Medicine now have a new understanding of the complexities of vitamin B12 disease

This work shows that in addition to the most common disease-causing genes, other genes are affected, resulting in more complex syndromes

The findings, published this week in the journal Nature Communications, are expected to support the treatment of affected patients in the future and have implications for genetic counseling

Vitamin B12, also known as cobalamin, is a dietary nutrient necessary for normal human development and health, found in animal foods but not in vegetables

Methylmalonic acidemia and hyperhomocysteinuria (cblC) are the most common inherited vitamin B12 disorders

However, some patients with typical and atypical cblC features do not have mutations in the MMACHC gene, but instead have mutations in the genes encoding the RONIN (also known as THAP11) and HCFC1 proteins

So, for this study, Poché and colleagues set out to look for other genes that might be affected by mutations in the HCFC1 and RONIN genes

"We developed mouse models with the same genetic mutation and recorded the animals' characteristics," Poché said.

The researchers demonstrated that this cblC-like disorder affecting the function of RONIN and HCFC1 proteins is a mixed syndrome, as it is both a cobalamin disorder and a ribosomal disorder

These findings have potential therapeutic implications

To design effective ribosomal therapies, they also need to better understand what the defect is in the ribosome

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Chern, T.