Mechanism Menkes disease

image shows phenotypic appearance of baby – characteristic fuzzy sparse hair, fair complexion, chubby cheeks, , irritable baby

the atp7a gene encodes transmembrane protein transport copper across cell membranes. found throughout body, except liver. in small intestines, atp7a protein helps control absorption of copper food. in other cells, protein travels between golgi apparatus , cell membrane maintain copper concentrations in cell. protein found in golgi apparatus, important modifying proteins, including enzymes. in golgi apparatus, atp7a protein provides copper enzymes critical structure , function of bone, skin, hair, blood vessels, , nervous system. 1 of enzymes, lysyl oxidase, requires copper proper function. enzyme cross-links tropocollagen strong collagen fibrils. defective collagen contributes many of aforementioned connective tissue manifestations of disease. if copper levels become excessive, protein travel cell membrane , eliminate excess copper cell. mutations in atp7a gene such deletions , insertions lead parts of gene being deleted, resulting in shortened atp7a protein. prevents production of functional atp7a protein, leading impaired absorption of copper food , copper not supplied enzymes.

microscopic examination of hair, revealing classical sign of pili torti. datta et al., 2008.