A Patient With Hereditary ATTR and a Novel AGel p.Ala578Pro Amyloidosis

Meera Sridharan, W. Edward Highsmith, Paul J. Kurtin, Michael T. Zimmermann, Jason D. Theis, Surendra Dasari, David Dingli

Research output: Contribution to journalArticlepeer-review

11 Scopus citations


Hereditary amyloidosis represents a group of diseases in which mutant proteins are deposited in various organs leading to their dysfunction. Correct identification of the amyloid-causing protein is critical because this will determine the optimal therapy for the patient. The most common type of hereditary amyloidosis is due to mutant transthyretin (ATTRm) deposition and often presents with heart failure or peripheral neuropathy. We report the first known case of a patient who had amyloidosis both due to a mutant transthyretin (p.Val122Ile) and due to a novel variant in the gelsolin gene (p.Ala578Pro). Both mutant proteins were identified by mass spectrometry analysis of amyloid deposits as well as sequencing of the genes. Molecular dynamic simulations suggest that the gelsolin p.Ala578Pro variant is likely amyloidogenic.

Original languageEnglish (US)
Pages (from-to)1678-1682
Number of pages5
JournalMayo Clinic proceedings
Issue number11
StatePublished - Nov 2018

ASJC Scopus subject areas

  • Medicine(all)


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