Peptide probes detect misfolded transthyretin oligomers in plasma of hereditary amyloidosis patients

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Science Translational Medicine  13 Sep 2017:
Vol. 9, Issue 407, eaam7621
DOI: 10.1126/scitranslmed.aam7621

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Marking misfolded proteins

Hereditary transthyretin amyloidosis is a systemic disease characterized by genetic mutations in transthyretin that cause misfolding and accumulation of transthyretin in amyloid deposits. Heart, eye, kidney, and brain tissue can be affected, leading to progressive organ dysfunction. Schonhoft et al. designed peptide probes that detected misfolded transthyretin oligomers in plasma samples from patients with hereditary amyloidosis with predominantly nervous system phenotypes. Treatment with a transthyretin kinetic stabilizer reduced the amount of misfolded oligomers. These transthyretin oligomer–specific probes may aid in earlier diagnosis and help unravel the mechanism of pathogenesis of hereditary amyloidosis.