Publication Type:

Journal Article

Source:

Asian Pacific Journal of Tropical Disease, Volume 6, Number 8, p.668-672 (2016)

URL:

https://www.scopus.com/inward/record.uri?eid=2-s2.0-84990902993&partnerID=40&md5=3614696b4ccbe82405292aa581973809

Abstract:

Menkes disease, also termed as “Menkes's syndrome”, is a disastrous infantile neurodegenerative disorder originated by diverse mutations in cupric cation-transport gene called ATP7A. This gene encodes a protein termed as copper transporting P-type ATP ase, essential for copper ion transport from intestine to the other parts of our body along with other transporters like copper transporter receptor 1 and divalent metal transporter 1. The copper transportation is vital in the neuronal development and synthesis of various enzymes. It is found to be an appreciated trace element for normal biological functioning but toxic in excess. It is essential for the metallation of cuproenzymes which is responsible for the biosynthesis of neurotransmitters and other vital physiological mechanisms. Copper is also actively involved in the transmission pathway of N-methyl-D-aspartate receptors and its subsequent molecular changes in neural cells. The expression of ATP7A gene in regions of brain depicts the importance of copper in neural development and stabilization. Studies revealed that the mutation of ATP7A gene leads the pathophysiology of various neurodegenerative disorders. This review focused on the normal physiological function of the gene with respect to their harmful outcome of the mutated gene and its associated deficiency which detriments the neural mechanism in Menkes patients. © 2016 Asian Pacific Tropical Medicine Press

Notes:

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Cite this Research Publication

S.K. Kanthlal, Jipnomon Joseph, Pillai, A. K. Baskaran, and Dr. Umadevi P., “Neural effects in copper deficient Menkes disease: ATP7A-a distinctive marker”, Asian Pacific Journal of Tropical Disease, vol. 6, pp. 668-672, 2016.

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