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    Home > Biochemistry News > Biotechnology News > Nature sub-published paper reveals complexity of vitamin B12 disease

    Nature sub-published paper reveals complexity of vitamin B12 disease

    • Last Update: 2022-01-25
    • Source: Internet
    • Author: User
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    Researchers at institutions including Baylor College of Medicine now have a new understanding of the complexities of vitamin B12 disease
    Scientists studied two rare inherited vitamin B12 disorders that affect the same genes as the most common vitamin B12 disorders, but have completely different clinical presentations


    This work shows that in addition to the most common disease-causing genes, other genes are affected, resulting in more complex syndromes
    The researchers searched for these genes and their functions

    Using mouse models, they found that genes involved in more complex forms of the disease not only cause classic vitamin B12 disease, but also affect ribosome production


    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
    Mutations in genes associated with B12 metabolism can lead to rare congenital problems with cobalamin metabolism, said Ross A.
    Poché, Ph.
    , associate professor of molecular physiology and biophysics at Baylor College of Medicine


    Methylmalonic acidemia and hyperhomocysteinuria (cblC) are the most common inherited vitamin B12 disorders
    Most of the patients had multisystem disease, including intrauterine growth restriction, hydrocephalus, severe cognitive impairment, refractory epilepsy, retinal degeneration, anemia, and congenital cardiac malformation

    Previous studies have shown that mutations in the MMACHC gene cause cblC disease


    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
    Changes in these proteins lead to decreased MMACHC gene expression and lead to more complex cblC-like diseases


    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.

    We confirmed that the mice developed cobalamin syndrome, as expected, but we also found that they had ribosome defects.

    "This is the first time that HCFC1 and RONIN genes have been identified as regulators of ribosome biosynthesis during development

    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
    "Some patients with cblC-like diseases may respond to cobalamin supplements to some extent, but we do not expect this to help with the problems caused by ribosome defects," Poché said


    To design effective ribosomal therapies, they also need to better understand what the defect is in the ribosome
    "We plan to functionally characterize the altered ribosomes at the molecular level to determine how their function is disrupted,

    " Poché said.


    Chern, T.
    , Achilleos, A.
    , Tong, X.
    et al.
    Mutations in Hcfc1 and Ronin result in an inborn error of cobalamin metabolism and ribosomopathy.
    Nat Commun 13, 134 (2022).
    org/ 10.

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