Menkes Disease
Menkes disease is a rare genetic disorder that affects copper levels in the body. It is caused by mutations in the ATP7A gene, which is responsible for transporting copper within cells. Our company stands at the forefront of rare disease research, particularly in conditions like Menkes disease, offering unparalleled advantages that cater to the unique needs of researchers and scientists in this field.
Overview of Menkes Disease
Menkes disease is a rare X-linked genetic disorder that presents with multisystem involvement stemming from impaired copper transport due to mutations in the ATP7A gene. The prevalence of Menkes disease is relatively low, with estimates ranging from 1 in 100,000 to 1 in 300,000 births. From developmental delays to distinctive physical features and neurological complications, Menkes disease manifests in diverse ways, underscoring the importance of targeted research and intervention strategies.
Fig.1 MRI of the brain and MRA from the individual. (Panichsillaphakit, E., et al., 2022)
Pathogenesis of Menkes Disease
The ATP7A gene plays a crucial role in copper absorption and distribution, essential for facilitating various enzymatic processes within the body. In individuals with Menkes disease, mutations in the ATP7A gene disrupt the normal copper transport mechanisms, resulting in copper deficiency. This deficiency interferes with the proper functioning of copper-dependent enzymes, leading to anomalies in connective tissue development, decreased neurotransmitter production, and impaired energy metabolism.
Fig.2 Location of ATP7A variant (p.Ala1217Aspfs*2) at protein level. (Mauri, A., et al., 2023)Diagnostics Development of Menkes Disease
Biochemical Analysis
Measurement of copper levels in the blood and tissues can help determine copper deficiency. Low copper and ceruloplasmin levels are indicative of Menkes disease.
Genetic Testing
Sequencing of the ATP7A gene, which is associated with Menkes disease, can identify mutations or deletions that disrupt copper transport and metabolism.
Therapeutics Development of Menkes Disease
| Types | Drug Names | Mechanism of Action | Targets | Research Phase |
|---|---|---|---|---|
| Small molecule drugs | Phenobarbital | GABAA receptor agonists for the therapy of neonatal epilepsy in Menkes disease | GABAA receptor | Approved |
| Copper-histidine | Directly delivering copper to brain cells | ATP7A | Phase III trials | |
| Elesclomol | Escorted copper to the mitochondria and increased cytochrome c oxidase levels in the brain | Copper | Preclinical research | |
| Gene therapy | rAAV9-rsATP7A | Using viral vectors to deliver functional copies of the ATP7A gene | ATP7A | Preclinical research |
Our Services
Our team of experts provides tailored support and guidance at every stage of the research journey, ensuring that researchers have the resources and expertise needed to make significant advancements in understanding and treating Menkes disease. Our animal model and therapeutic development platform, enables us to work towards developing novel therapeutics to improve outcomes for individuals affected by this condition.
Therapeutics Development Platforms
Animal Models of Menkes Disease
Animal models play a crucial role in studying genetic disorders like Menkes disease, providing insights into disease mechanisms and potential therapeutic interventions. Our company provides various animal models for you to gain a better understanding of Menkes disease.
| Genetically Engineered Models | ||
| To create a genetically engineered animal model of Menkes disease, researchers typically use animals that have been engineered by genetic engineering techniques such as CRISPR/Cas9 to have a mutation in the ATP7A gene. | ||
| Optional Models |
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| Optional Species | Mice, Rats, Zebrafish, Drosophila, Non-Human Primates, Others | |
Why Choose Us
One of our key strengths lies in providing a comprehensive one-stop solution for all aspects of Menkes disease research, including pharmacokinetic studies and drug safety evaluation. By fostering collaboration, innovation, and a commitment to excellence, our company empowers researchers to drive groundbreaking discoveries in the field of Menkes disease.
If you are interested in our services, we invite you to reach out to us for more information about the services we provide.
References
- Panichsillaphakit, Ekkarit et al. "Copper-histidine therapy in an infant with novel splice-site variant in the ATP7A gene of Menkes disease: the first experience in South East Asia and literature review." BMJ case reports 15.4 (2022): e247937.
- Mauri, Alessia et al. "Menkes disease complicated by concurrent ACY1 deficiency: A case report." Frontiers in genetics 14 (2023): 1077625.
All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.