STRIKING A BALANCE: Errors in copper homeostasis can lead to serious problems in development.© ISTOCK.COM/WARRENRANDALCARRZ
The paper
S.A. Zlatic et al., “Rare disease mechanisms identified by genealogical proteomics of copper homeostasis mutant pedigrees,” Cell Systems, 6:368-80.e6, 2018.
PARSING THE PROTEOME
Discovering the molecular mechanisms underlying disease-causing genetic mutations can be challenging. Biologists Stephanie Zlatic and Victor Faundez of Emory University took a novel approach to this problem: they compared the proteomes of patients with Menkes disease, a rare disorder, to those of healthy relatives. People with the condition have a single-gene mutation that prevents their bodies from regulating levels of copper, which is needed for normal growth and development and is integral to some metabolic pathways. The metal’s depletion results in developmental delays, intellectual disabilities, and, often, death.
FINDING NEW PATHWAYSThis genealogical proteomics approach allows researchers to identify disease pathways that ...
