Open AccessNeural effects in copper deficient Menkes disease: ATP7A-a distinctive marker
Author(s) -
S.K. Kanthlal,
Jipnomon Joseph,
Anil Kumar Baskaran Pillai,
P. Uma Devi
Publication year - 2016
Publication title -
asian pacific journal of tropical disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.208
H-Index - 33
ISSN - 2222-1808
DOI - 10.1016/s2222-1808(16)61107-6
Subject(s) - atp7a , menkes disease , transporter , gene , biology , receptor , mutation , microbiology and biotechnology , transport protein , biochemistry , chemistry , copper , copper metabolism , organic chemistry
Menkes disease, also termed as “Menkes’s syndrome”, is a disastrous infantile\udneurodegenerative disorder originated by diverse mutations in cupric cation-transport gene\udcalled ATP7A. This gene encodes a protein termed as copper transporting P-type ATPase,\udessential for copper ion transport from intestine to the other parts of our body along with other\udtransporters like copper transporter receptor 1 and divalent metal transporter 1. The copper\udtransportation is vital in the neuronal development and synthesis of various enzymes. It is\udfound to be an appreciated trace element for normal biological functioning but toxic in excess.\udIt is essential for the metallation of cuproenzymes which is responsible for the biosynthesis\udof neurotransmitters and other vital physiological mechanisms. Copper is also actively\udinvolved in the transmission pathway of N-methyl-D-aspartate receptors and its subsequent\udmolecular changes in neural cells. The expression of ATP7A gene in regions of brain depicts\udthe importance of copper in neural development and stabilization. Studies revealed that the\udmutation of ATP7A gene leads the pathophysiology of various neurodegenerative disorders.\udThis review focused on the normal physiological function of the gene with respect to their\udharmful outcome of the mutated gene and its associated deficiency which detriments the neural\udmechanism in Menkes patients