Hereditary transthyretin amyloidosis
T. Adyan, A. V. Polyakov
Abstract
Hereditary transthyretin amyloidosis is described in this review, including the TTR gene structure and mutation spectrum, the transthyretin protein structure and functions, the main clinical manifestations of transthyretin amyloidosis. Also the problems of differential diagnosis are discussed, the history of the spread of the disease among various ethnic groups is examined, information is provided on the current possibilities of pathogenetic and etiological treatment of the disease.
Topics & Concepts
TransthyretinAmyloidosisEtiologyDiseaseMedicineMutationPathologyGeneGeneticsBiologyAmyloidosis: Diagnosis, Treatment, OutcomesSarcoidosis and Beryllium Toxicity ResearchProtein Kinase Regulation and GTPase Signaling