Abnormal chondrocyte development in a zebrafish model of cblC syndrome restored by an MMACHC cobalamin binding mutant

Paz, David; Pinales, Briana E; Castellanos, Barbara S.; Perez, Isaiah; Gil, Claudia B.; Madrigal, Lourdes Jimenez; Reyes-Nava, Nayeli G; Castro, Victoria L.; Sloan, Jennifer L.; Quintana, Anita M.

doi:10.1016/j.diff.2023.04.003

Cited by 1 publication

(1 citation statement)

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“…Indeed, craniofacial dysmorphia is observed also in mice carrying the Mmachc mutation and is associated with alteration in HCy levels that can be detected in the model [ 37 , 50 ]. However, zebrafish lacking the expression of mmachc show mild craniofacial dysmorphia and no alterations in HCy levels [ 53 ], suggesting the outcome is not dependent on the alteration of metabolism but possibly due to specific (and unknown) activities of mmachc unrelated to VitB12 metabolism as a coenzyme. A similar conclusion can be made considering eye disease.…”

Section: Vitamin B12 Deficiency: What Can We Learn From Experimental ...mentioning

confidence: 99%

Vitamin B12 Deficiency and the Nervous System: Beyond Metabolic Decompensation—Comparing Biological Models and Gaining New Insights into Molecular and Cellular Mechanisms

Mathew,

Di Matteo,

La Rosa

et al. 2024

IJMS

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Vitamin B12 (VitB12) is a micronutrient and acts as a cofactor for fundamental biochemical reactions: the synthesis of succinyl-CoA from methylmalonyl-CoA and biotin, and the synthesis of methionine from folic acid and homocysteine. VitB12 deficiency can determine a wide range of diseases, including nervous system impairments. Although clinical evidence shows a direct role of VitB12 in neuronal homeostasis, the molecular mechanisms are yet to be characterized in depth. Earlier investigations focused on exploring the biochemical shifts resulting from a deficiency in the function of VitB12 as a coenzyme, while more recent studies propose a broader mechanism, encompassing changes at the molecular/cellular levels. Here, we explore existing study models employed to investigate the role of VitB12 in the nervous system, including the challenges inherent in replicating deficiency/supplementation in experimental settings. Moreover, we discuss the potential biochemical alterations and ensuing mechanisms that might be modified at the molecular/cellular level (such as epigenetic modifications or changes in lysosomal activity). We also address the role of VitB12 deficiency in initiating processes that contribute to nervous system deterioration, including ROS accumulation, inflammation, and demyelination. Consequently, a complex biological landscape emerges, requiring further investigative efforts to grasp the intricacies involved and identify potential therapeutic targets.

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Section: Vitamin B12 Deficiency: What Can We Learn From Experimental ...mentioning

confidence: 99%

Vitamin B12 Deficiency and the Nervous System: Beyond Metabolic Decompensation—Comparing Biological Models and Gaining New Insights into Molecular and Cellular Mechanisms

Mathew,

Di Matteo,

La Rosa

et al. 2024

IJMS

View full text Add to dashboard Cite

show abstract

Abnormal chondrocyte development in a zebrafish model of cblC syndrome restored by an MMACHC cobalamin binding mutant

Cited by 1 publication

References 43 publications

Vitamin B12 Deficiency and the Nervous System: Beyond Metabolic Decompensation—Comparing Biological Models and Gaining New Insights into Molecular and Cellular Mechanisms

Vitamin B12 Deficiency and the Nervous System: Beyond Metabolic Decompensation—Comparing Biological Models and Gaining New Insights into Molecular and Cellular Mechanisms

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