A Patient With Hereditary ATTR and a Novel AGel p.Ala578Pro Amyloidosis. Mayo Clin Proc 2018 Nov;93(11):1678-1682
Date
08/11/2018Pubmed ID
30093168DOI
10.1016/j.mayocp.2018.06.016Scopus ID
2-s2.0-85051044997 (requires institutional sign-in at Scopus site) 18 CitationsAbstract
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.
Author List
Sridharan M, Highsmith WE, Kurtin PJ, Zimmermann MT, Theis JD, Dasari S, Dingli DAuthor
Michael T. Zimmermann PhD Director, Assistant Professor in the Clinical and Translational Science Institute department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
Amyloid Neuropathies, FamilialAmyloidogenic Proteins
Dyspnea
Gelsolin
Germ-Line Mutation
Humans
Male
Middle Aged
Proteomics
