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Menkes Disease: Research Activities and Scientific Advances

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Institute Activities and Advances

The Institute's research and clinical training on the topic of Menkes disease are conducted primarily by researchers in the Unit on Human Copper Metabolism within the Division of Intramural Research (DIR) Molecular Medicine Program. Their work includes, but is not limited to: 

  • Developing rapid and reliable neurochemical and molecular techniques for very early diagnosis
  • Conducting a long-term clinical trial of very early copper histidine treatment for infants with Menkes disease
  • Developing and testing alternative therapeutic approaches, including a combination of gene therapy and copper injection in mice that have a condition that mimics Menkes disease. These experiments are expected to lay the groundwork for clinical trials of brain-directed therapies in Menkes disease patients with complete loss-of-function mutations, for whom clinical responses to conventional therapy typically are limited.
    • Unit researchers recently published results from their studies of the gene replacement strategy in the mouse model of Menkes disease. This mouse model carries a mutant ATP7A gene, and the mouse pups die by age 14 days due to abnormal copper transport. The researchers injected a normal ATP7A gene into the brains of the Menkes mice using a harmless virus that carries the normal gene into brain cells. Mice receiving the normal gene had improved copper processing and lived several days longer than untreated mice. The researchers then treated a group of mice with the gene replacement therapy followed by the injection of a dose of copper. Mice receiving this combined treatment showed a significant response to treatment, surviving three times longer on average than the untreated mice, with 20% of the mice living for a remarkable 10 months. PMID: 21878905
    • Another recent publication by Unit researchers found that injections of L-threo-dihydroxyphenylserine (L-DOPS) improved brain biochemistry in mice with the ATP7A mutation. However, the drug did not have the same positive effects on brain degeneration or growth as the gene therapy had in other studies. PMID: 23224983
  • Discovering several mutations in the Menkes disease gene that cause distal motor neuropathy
  • Investigating the relationship between the Menkes protein and malfunctions of copper-requiring enzymes
  • Discovering an important role of copper metabolism in cardiac development, leading to the conclusion that congenital heart disease may be an underappreciated abnormality in Menkes disease

Through programs of the DIR's Section on Developmental Genomics, the NICHD also supports training for clinicians so they are better prepared to diagnose and treat genetic disorders, and provides comprehensive evaluations and care for patients with suspected or diagnosed genetic conditions.

Other Activities and Advances

The Unit on Human Copper Metabolism also established and maintains the Menkes Disease and Occipital Horn Syndrome International Registry. The purpose of this international registry is to gather information about these conditions and to support the care of patients and families around the world who are impacted by them. The registry also is becoming a resource for researchers studying diagnosis and treatment.

Last Updated Date: 10/25/2013
Last Reviewed Date: 08/14/2013
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