Somatic mosaicism in Menkes disease suggests choroid plexus-mediated copper transport to the developing brain.

ABSTRACT: The primary mechanism of copper transport to the brain is unknown, although this process is drastically impaired in Menkes disease, an X-linked neurodevelopmental disorder caused by mutations in an evolutionarily conserved copper transporter, ATP7A. Potential central nervous system entry routes for copper include brain capillary endothelial cells that originate from mesodermal angioblasts and form the blood-brain barrier, and the choroid plexuses, which derive from embryonic ectoderm, and form the blood-cerebrospinal fluid barrier. We exploited a rare (and first reported) example of somatic mosaicism for an ATP7A mutation to shed light on questions about copper transport into the developing brain. In a 20-month-old Menkes disease patient evaluated before copper treatment, blood copper, and

SUBMITTER: Donsante A 

PROVIDER: S-EPMC3117432 | biostudies-literature | 2010 Oct

REPOSITORIES: biostudies-literature