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Molybdenum Cofactor Deficiency (MOCOD)

Molybdenum cofactor deficiency (MOCOD) is a rare condition characterized by brain dysfunction (encephalopathy) that worsens over time. Our company is committed to driving forward the field of molybdenum cofactor deficiency (MOCOD) research. With our exceptional team of accomplished researchers and scientists, we are at the forefront of pioneering advancements in the development of diagnostic tools and therapeutic drugs to effectively manage this complex disease. As your trusted partner in MOCOD research, we provide seamless and all-encompassing support to meet your scientific research needs.

Overview of MOCOD

MOCOD is a rare genetic disorder characterized by the absence or dysfunction of molybdopterin, a cofactor essential for the activity of several enzymes, including sulfite oxidase, xanthine dehydrogenase/oxidase, and aldehyde oxidase. The deficiency leads to the accumulation of toxic levels of sulfite, resulting in neurological damage and a range of severe symptoms. The incidence rate of MOCOD is 1/(100,000~200,000).

MOCOD can be caused by mutations in the MOCS1, MOCS2, or GEPH genes, corresponding to types A, B, and C respectively. These mutations disrupt the biosynthesis of molybdopterin, leading to the absence of active enzymes involved in vital metabolic processes. The dysfunction of sulfite oxidase, xanthine dehydrogenase/oxidase, and aldehyde oxidase contributes to the accumulation of sulfite and other toxic metabolites, resulting in neurological damage and other clinical manifestations observed in MOCOD individuals.

Fig.1 Biosynthesis of the molybdenum cofactor and the disease classification.Fig.1 Biosynthesis of the molybdenum cofactor and the disease classification. (Alonzo Martinez, et al, 2020)

Therapeutics Development of MOCOD

  • Targets of MOCOD Therapy Development
Sulfite Oxidase Activity Restoration Pathway

Sulfite Oxidase Activity Restoration Pathway

Sulfite oxidase (SO) plays a crucial role in the metabolism of sulfite, the accumulation of which leads to neurological damage and other symptoms in MOCOD. Enhanced or restored SO activity is an important strategy for the development of therapeutic drugs for MOCOD. For example, SO activators, such as cPMP or bisulfite, can enhance the activity of SO, thereby reducing toxic levels of sulfite and preventing associated neurological damage.

Xanthine Dehydrogenase/Oxidase and Aldehyde Oxidase Activities Restoration Pathway

Xanthine Dehydrogenase/Oxidase and Aldehyde Oxidase Activities Restoration Pathway

Xanthine dehydrogenase/oxidase and aldehyde oxidase are also dependent on the molybdopterin cofactor and contribute to the metabolism of xanthine and aldehyde compounds. Dysfunction of these enzymes in MOCOD leads to the accumulation of xanthine and aldehyde metabolites, further contributing to the disease pathology. Developing therapeutic strategies that address the deficiency in these enzymes can potentially mitigate the buildup of toxic metabolites and alleviate the symptoms associated with MOCOD.

  • Types of MOCOD Therapy Development
  • Enzyme Replacement Therapy (ERT) Development
    Enzyme replacement therapy involves the administration of exogenous enzymes to replace or augment the deficient enzymes in MOCOD. In the case of MOCOD, ERT focuses on the replacement of sulfite oxidase, xanthine dehydrogenase/oxidase, and aldehyde oxidase. By providing functional enzymes, ERT aims to restore the metabolic balance and reduce the toxic metabolite accumulation in affected individuals.
  • Gene Therapy Development
    MOCOD gene therapy aims to introduce functional MOCS1, MOCS2, or GEPH genes to restore the production of the molybdopterin cofactor. Gene therapy holds great potential for providing long-term therapeutic benefits by addressing the underlying genetic cause of MOCOD.

Our Services

Our company leads the way in rare disease research and therapeutic development. Our experienced team of scientists and researchers is committed to understanding the intricacies of MOCOD and other rare diseases. Utilizing cutting-edge technology, our goal is to develop advanced diagnostic tools for early intervention in MOCOD. Through the creation of MOCOD animal models and extensive investigations into the disease's pathological mechanisms and molecular targets, we can conduct thorough preclinical studies to assess the safety and efficacy of potential drug candidates.

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  • Johannes, Lena, Chun-Yu Fu, and Günter Schwarz. "Molybdenum cofactor deficiency in humans." Molecules 27.20 (2022): 6896.
  • Alonzo Martinez, M. C., et al. "Molybdenum cofactor deficiency: mega cisterna magna in two consecutive pregnancies and review of the literature." The Application of Clinical Genetics (2020): 49-55.
  • Jakubiczka-Smorag, Joanna, et al. "Mouse model for molybdenum cofactor deficiency type B recapitulates the phenotype observed in molybdenum cofactor deficient patients." Human genetics 135 (2016): 813-826.

All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.

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