Metabolizm miedzi oraz charakterystyka dziedzicznych zespołów chorobowych, na tle niedoboru miedzi, spowodowanych zaburzeniami aktywności białka ATP7A

TL;DRAbstract

Copper due to its oxyreductive properties plays a role as a catalytic cofactor in a variety of enzymes. On the other hand excess of copper can be cytotoxic because copper can participate in reactions that result in the production of highly reactive free radicals. Thus, living organisms developed precise regulatory mechanisms to keep accurate copper homeostasis. In cells copper ions are bound by several proteins such as: membrane transporters (CTR1 and DMT1) responsible for influx of Cu ions into cytoplasm; copper chaperones (CCS, ATOX1, COX and SCO) necessary for copper delivery to specific subcellular compartments and thereby to cuproenzymes; Cu-transporting P-type ATPases (ATP7A and ATP7B) involved in copper transport into the secretory pathway and its export from the cell. Mutations of these proteins result in disturbance of copper homeostasis and lead to severe metabolic diseases. For example mutations of critical copper-transport protein- ATP7A are implicated in distinctive phenot

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